Schedule of ASHG Scientific Sessions and Events All events are at the San Diego Convention Center (SDCC), unless otherwise indicated. (*) Asterisk denotes meetings that are by invitation or pre-registration only. Otherwise, attendance may be assumed to be open to all registrants.

Saturday, October 18*8:00am-4:00pm ASHG Undergraduate Faculty Genetics Education Workshop Room 24AB8:00am-5:00pm Exhibitor Registration Open Lobby D *8:30am-3:00pm ASHG Board of Directors Meeting #2 Room 26A 10:00am-3:00pm ASHG/ASBH Joint Symposium: From Clinical to Community Sequencing. Admit-

tance on a first-come, first-served basis.Room 25

10:00am-5:00pm Speaker Presentation/Upload Room Open Room 33C 12:00pm-6:00pm Scientific Registration Open Lobby D *12:00pm-4:00pm ASHG Program Committee Meeting #1 Room 26B*2:30pm-4:00pm ASHG Interactive Workshop: Introduction to Accessing and Applying ENCODE

Data (sold out)Room 32AB

*2:30pm-4:00pm ASHG Interactive Workshop: Ensembly Highlights (sold out) Room 31AB 5:00pm-5:30pm Session 1: ASHG Presidential Address: The Time of Our Lives Hall B1 5:30pm-6:50pm Session 2: Plenary Abstracts Featured Presentation I Hall B1 7:30pm-9:30pm #ASHG14 Tweetup: Join your fellow #ASHG14 tweeters for drinks and

conversation.Southpaw Social Club

Sunday, October 19*7:00am-8:00am ASHG Trainee Peer Networking Breakfast (sold out) Room 25 7:00am-5:00pm Scientific Registration Open Lobby D 7:00am-5:00pm Speaker Presentation/Upload Room Open Room 33C *7:00am-8:00am ASHG Communications Committee Meeting Room 27A 8:00am-9:30 am Session 3: Distinguished Speakers Symposium Hall B1 8:00am-6:00pm Exhibitor Registration Open Lobby D 10:00am-12:00pm Concurrent Invited Session I:

Session 4: Beyond Canonical CNVs: Interpreting Other Forms of Genomic Struc-tural Variation

Room 6CF

Session 5: Beyond Mendel: Complexities of Simple Mendelian Disorders Room 20A Session 6: Crowdsourced Genetics Room 6AB Session 7: Curiouser and Curiouser! Navigating Career Transitions and Challeng-es in Genetics

Room 20BC

Session 8: Targeted Drug Therapies for Progressive Genetic Disorders Room 6DE Session 9: The X-Factor of Complex Disease: From Evolution to Association Studies of the X Chromosome

Room 30

Session 10: Using Zebrafish to Model Human Genetic Disease Variation Room 29 Session 11: Whole Genome/Exome Sequencing: Patient Expectations, Literacy, and Preferences for Genomic Information

Room 20D

10:00am-5:00pm How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait Project — An Interactive Art Initiative Exhibit

Lobby 20

11:00am-7:00pm Exhibits Open Exhibit Hall E 11:00am-7:00pm Posters Open for Viewing Exhibit Hall E 11:00am-7:00pm ASHG/FASEB Career Resources Open Exhibit Hall E 12:00pm-1:30pm Lunch Break, Open Viewing for Posters and Exhibits Exhibit Hall E*12:00pm-1:30pm ASHG Trainee-Mentor Luncheon (sold out) Room 25

Check the website at ashg.org/2014meeting for affiliate and exhibitor listings.

*12:00pm-1:30pm ASHG Event: Diagnostic Challenges: Review and Discussion of Unique Cases. ASHG acknowledges Children's Hospital of Los Angeles for providing a grant in support of this session (sold out)

Room 2

*12:00pm-1:30pm ASHG Interactive Workshop: Epigenomic Annotation of Genetic Variants Using The Washington University Epigenome Browser (sold out)

Room 32AB

1:30pm-3:30pm Concurrent Platform Session A:

Session 12: Patterns and Determinants of Genetic Variation: Recombination, Mutation, and Selection

Hall B1

Session 13: Genomic Studies of Autism Room 6AB Session 14: Statistical Methods for Pedigree-Based Studies Room 6CF Session 15: Prostate Cancer: Expression Informing Risk Room 6DE Session 16: Variant Calling: What Makes the Difference? Room 20A Session 17: New Genes, Incidental Findings and Unexpected Observations Re-vealed by Exome Sequencing

Room 20BC

Session 18: Type 2 Diabetes Genetics Room 20D Session 19: Genomic Methods in Clinical Practice Room 28 Session 20: Genetics and Mechanisms in Neurological Disorders Room 29 Session 21: Developmental Genetics: Immunodeficiencies and Autoimmune Disorders

Room 30

4:00pm-6:00pm Poster Session I (Sunday authors present posters at boards) Exhibit Hall E6:00pm-7:00pm ASHG Welcome Reception Exhibit Hall E 6:30pm-7:30pm 2014 Gruber Genetics Prize Ceremony and Lecture Room 20A

Monday, October 207:00am-5:00pm Speaker Presentation/Upload Room Open Room 33C 7:30am-5:00pm Scientific Registration Open Lobby D 8:00am-4:00pm Exhibitor Registration Open Lobby D 8:00am-8:25am Session 22: Plenary Abstracts Featured Presentation II Hall B1 8:30am-8:45am Session 23: ASHG Award for Excellence in Human Genetics Education Hall B1 8:45am-9:00am Session 24: ASHG Victor A. McKusick Leadership Award Presentation Hall B1 9:15am-9:30am Session 25: ASHG Curt Stern Award Presentation Hall B1

9:30am-10:00am Session 26: ASHG William Allan Award Presentation Hall B1

10:00am-4:00pm Exhibits Open Hall E10:00am-4:00pm Posters Open for Viewing Hall E 10:00am-4:00pm ASHG/FASEB Career Resources Open Hall E 10:00am-5:00pm How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait

Project — An Interactive Art Initiative ExhibitLobby 20

10:30am-12:30pm Concurrent Platform Session B:

Session 27: Cloudy with a Chance of Big Data Hall B1 Session 28: Architecture and Impact of Human Knockout Alleles Room 6AB Session 29: Population Structure, Admixture, and Human History Room 6CF Session 30: Neurogenetics: From Gene to Mechanism Room 6DE Session 31: Cardiovascular Genetics I: Single Gene Stories Room 20A Session 32: Molecular Insights into Mendelian Disorders Room 20BC Session 33: Genomic Alterations of Tumors Room 20D Session 34: Metabolic Disorders: New Diagnostics and Pathogenic Insights Room 28 Session 35: Looking between the Streetlamps: Variant Phasing and Imputation Room 29 Session 36: Chromatin, Gene Regulation and Expression Room 30

12:30pm-2:00pm Lunch Break, Posters, and Exhibits Exhibit Hall E

12:30pm-2:00pm ASHG Trainee Professional Development Program. Admittance on a first-come, first-served basis.

Exhibit Hall E

*12:30pm-2:00pm ASHG Interactive Workshop: Advanced Features of the UCSC Genome Browser (sold out)

Room 32AB

*12:30pm-2:00pm Behind the Scenes: Mock NIH Study Section Workshop (sold out) Room 25 *12:30pm-2:00pm ASHG Interactive Workshop: iSeqTools to De-mistify the Cloud and Genomics

Analysis for Researchers (sold out)Room 24

*12:30pm-2:00pm AJHG Editorial Board Meeting Room 26B *12:30pm-2:00pm ASHG Information and Education Committee Meeting Room 27A *12:30pm-2:00pm ASHG/NHGRI Public Policy Fellows Luncheon Room 23 *12:45pm-1:45pm Poster Walk I NEW for 2014! (Admittance by advance registration only) Exhibit Hall E 2:00pm-4:00pm Poster Session II (Monday authors present posters at boards) Exhibit Hall E 4:30pm-6:30pm Concurrent Platform Session C:

Session 37: From Bytes To Phenotypes Hall B1 Session 38: Rare Mutations, Well Done Room 6AB Session 39: Cardiovascular Genetics II: Genetic Discovery and Characterization Room 6CF

Session 40: Genetics of Complex Neuropsychiatric Disorders Room 6DE Session 41: Statistical Methods for Population Based Studies Room 20A Session 42: Genome Variation and its Impact on Autism and Brain Development Room 20BC Session 43: ELSI Issues in Genetics Room 20D Session 44: Prenatal, Perinatal, andReproductive Genetics Room 28 Session 45: Advances in Defining the Molecular Mechanisms of Mendelian Disorders

Room 29

Session 46: Epigenomics of Normal Populations and Disease States Room 30 6:30pm-8:00pm ASHG Trainee Networking Session Lobby 20

Tuesday, October 217:00am-8:00am ASHG Training and Development Committee Meeting Room 27A 7:00am-5:00pm Speaker Presentation/Upload Room Open Room 33C 7:30am-5:00pm Scientific Registration Open Lobby D 8:00am-4:15pm Exhibitor Registration Open Lobby D 8:00am-8:25am Session 47: Plenary Abstracts Featured Presentation III Hall B1 8:30am-10:00am Session 48: ASHG/ESHG Building Bridges Session: Towards Finding Global

Agreement on Topical Discussions in Genetics: Evolving Uncertainties in Genomic Medicine

Hall B1

10:00am-4:15pm Exhibits Open Exhibit Hall E

10:00am-4:00pm Posters Open for Viewing Exhibit Hall E

10:00am-4:00pm ASHG/FASEB Career Resources Open Exhibit Hall E

10:00am-5:00pm How Do You Think Genetic Research Will Affect the Future? The Genetic Portrait Project — An Interactive Art Initiative Exhibit

Lobby 20

10:30am-12:30pm Concurrent Platform Session D:

Session 49: Detailing the Parts List Using Genomic Studies Hall B1 Session 50: Statistical Methods for Multigene, Gene Interaction and Pathway Analyses

Room 6AB

Session 51: Neurogenetics: From Gene to Mechanism Room 6CF Session 52: Contribution of Common and Rare Variation to Obesity-Related Traits Room 6DE Session 53: The Dynamic Genome: Structural and Somatic Variation Room 20A Session 54: Expanding Clinical Phenotypes Room 20BC

Session 55: Cancer Susceptibility Genes: Identification and Implementation Room 20D Session 56: Balanced and Unbalanced Chromosomal Rearrangements Room 28 Session 57: Diagnostic Yield of New Genomic Technologies Room 29 Session 58: Genetic/Genomic Education and Services Delivery Room 30

*12:30pm-2:00pm ASHG Advocates Luncheon: Genetic Testing in Children and Adolescents Room 7B 12:30pm-2:00pm Lunch Break, Posters, and Exhibits Exhibit Hall E *12:30pm-2:00pm ASHG Program Committee Meeting #2 Room 26B 12:30pm-2:00pm ASHG Trainee Professional DevelopmentProgram. Admittance on a first-come,

first-served basis.Exhibit Hall E

*12:30pm-2:00pm Behind the Scenes: ASHG PublicationsWorkshop (sold out) Room 25 *12:30pm-2:00pm ASHG Interactive Workshop: Best Practices for Variant Discovery with the GATK

(sold out)Room 24

12:30pm-2:00pm ASHG Interactive Workshop: Clinical Genomics at NCBI (sold out) Room 32AB12:45pm-1:45pm Poster Walk II NEW for 2014! (Admittance by advance registration only) Exhibit Hall E 2:00pm-4:00pm Poster Session III (Tuesday authors present posters at boards) Exhibit Hall E 4:30pm-6:30pm Concurrent Platform Session E:

Session 59: We Have the Technology: Next-Generation Genomic Methods Hall B1Session 60: Hereditary Breast-Ovarian Cancer Room 6AB Session 61: Genomic Studies of Schizophrenia and Bipolar Disorder Room 6CF Session 62: From Association to Function in Complex Traits Room 6DE Session 63: Therapy for Genetic Disorders Room 20A Session 64: Exome Sequencing as Standard of Care in Clinical Genetics Room 20BC Session 65: Beyond the Sequence: Genomic Regulation and Disease Room 20D Session 66: A Clear Vision for Genetic Eye Diseases Room 28 Session 67: Autoimmune Genes: Discovery & Function Room 29 Session 68: Pharmacogenetics: From Association to Action Room 30

*6:30pm-8:00pm ASHG Awards Committee Meeting Room 27A

Wednesday, October 227:00am-10:00am Speaker Presentation/Upload Room Open Room 33C 7:30am-10:00am Scientific Registration Open Lobby D 9:00am-11:00am Concurrent Invited Session II:

Session 69: Circulating Cell-Free Nucleic Acids as Clinical Biomarkers Room 6AB Session 70: Genomic Medicine Case Conference: Illustrative Clinical Examples Room 20D Session 71: Genomic Variation: Interpreting the Uninterpreted Room 20A Session 72: Genetics of Sleep and Circadian Disorders Room 30 Session 73: Heritability and Risk Prediction for Complex Traits: Regulatory Variants and Polygenic Models

Room 20BC

Session 74: Stakeholder Engagement in Genomics Policy Development: What Is It? Why Do It? How?

Room 29

Session 75: Variation, Mutation, and Selection through the Lens of Regulatory Genomics

Room 6CF

Session 76: Viruses, Genomic Instability, and the Pathogenesis of Human Cancers

Room 6DE

11:15am-12:30pm Session 77: ASHG Membership/Business Meeting and Announcement of the C.W. Cotterman Award Winners and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Winners

Room 20BC

Saturday, October 18 5:00 PM–5:30 PM

1. ASHG Presidential Address: The Time of Our Lives Hall B1, Ground Level, Convention Center

Cynthia Casson Morton, Brigham and Women’s Hospital/Harvard Medical School

While every instant ever known to me as a human geneticist has been exciting, we now live in a moment in history when our science is poised as never before to improve personal and public health. The rapidity of technological advances in sequencing has been nothing short of amazing, and the biomedical applications of genomics surround us and are steadily increasing. Presently, we face formidable challenges in variant interpretation and in the optimal way to deliver information from genetic tests. We find ourselves engaged in frequent discourse about how to validate the function of variants and what results should be communicated to individuals. Yet, we have a history of delivering genetic information that is of uncertain clinical significance and that is incidental in nature. I believe this experience has prepared us for our next steps in this journey, and that we will go forward in earnest on a daily basis to provide state-of-the-art knowledge to all those who seek our assistance. It is our privilege. But it also is our responsibility to improve that knowledge at the greatest possible speed. How will we go about this task? This will be a legacy of our times, and is the time of our lives as human geneticists.

Saturday, October 18 5:30 PM–6:50 PM

2. Plenary Abstracts Featured Presentation I Hall B1, Ground Level, Convention Center

Moderators: Andrew S. McCallion, Johns Hopkins Univ, Baltimore

These sessions include a diverse set of presentations selected from the top-rated abstracts. Each author will give a 15-minute presentation, with an additional five minutes for discussion.

1/5:30pm The UK10K project: Rare variants in health and disease. N. Soranzo, UK10K Consortium.

2/5:50pm Human-specific gene evolution and structural diversity of the chromosome 16p11.2 autism CNV. X. Nuttle, G. Giannuzzi, M. H. Duyzend, P. H. Sudmant, O. Penn, G. Chiatante, M. Malig, J. Huddleston, L. Denman, L. Harshman, C. Baker, A. Raja, K. Penewit, F. Antonacci, R. Bernier, A. Reymond, E. E. Eichler.

3/6:10pm Discovery and functional characterization of recurrent gene fusions from 7,470 primary tumor transcriptomes across 28 human cancers. C. Bandlamudi, P. Lin, J. Tian, R. Grossman, K. White.

4/6:30pm Phase III trial of afamelanotide 16 mg subcuta-neous bioresorbable implants for the treatment of erythropoietic protoporphyria. R. J. Desnick, K. E. Anderson, D. M. Bissell, J. R. Bloomer, H. L. Bonkovsky, M. Lebwohl, H. Lim, C. Parker, J. Phillips, H. Naik, M. Balwani.

Download the ASHG 2014Mobile App Now!

http://www.ashg.org/MeetingApp/

You can also scan this code with a QR

Reader on your device.

Sunday, October 19: Concurrent Invited Session I TIME Room 6CF, Upper Level Room 20A, Upper Level Room 6AB, Upper Level Room 20BC, Upper Level

SESSION 04 – Beyond Canonical CNVs: Interpreting Other Forms of Genomic Structural VariationCo-Moderators: Ryan E. Mills, Univ Michigan, Ann Arbor; and Jan Korbel, European Molec Biol Lab (EMBL), Heidelberg, Germany

SESSION 05 – Beyond Mendel: Complexities of Simple Mende-lian DisordersCo-Moderators: Jeenah Park, Johns Hopkins Sch Med, Baltimore; and Shira G. Ziegler, Johns Hopkins Sch Med, Baltimore

SESSION 06 – Crowdsourced GeneticsCo-Moderators: Itisk Pe’er, Co-lumbia Univ, New York; and Yaniv Erlich, Whitehead Inst Biomed Res, Cambridge, MA

SESSION 07 – Curiouser and Curiouser! Navigating Career Transitions and Challenges in GeneticsCo-Moderators: Amy L. Stark, Univ Chicago; and Krista A. Geister, Seattle Children’s

10:00 am Analysis of SVs in human popula-tions. M. Gerstein.

Elucidating the contribution of CFTR allelic variation and modifier genes to phenotypic variation in cystic fibrosis. J. Park.

Crowd mining: Dissecting the ge-netic architecture of complex traits with millions of people. Y. Erlich.

When, where, why, what, and how: Finding/recruiting for the right post-doctoral position. B. E. Stranger.

10:30 am Complex and multi-allelic forms of copy number variation. S. McCa-rroll.

Opening Pandora’s box: The molecular basis of non-penetrance in PRPF31-associated retinitis pigmentosa. A. M. Rose.

Crowd computing: Scientific dis-coveries by protein folding game. F. Khatib.

Clinical connection: Careers in genetic diagnostics. K. Deak.

11:00 am Genomic landscape of polymorphic nuclear mitochondrial insertions in humans and other primates. R. E. Mills.

RNA-sequencing reveals a complex role of Ataxin-1 in SCA1. M. A. Ingram.

Crowd experiments: Translating a trillion points of data into new disease insights. A. Butte.

Launching your academic career: Take off the training wheels and enjoy the ride. S. Camper.

11:30 am Discovery and impact of balanced inversion polymorphisms. J. Korbel.

The muscular dystrophies: Re-vealing the genetic and phenotypic variability. N. M. Vieira.

Crowd funding: A personal quest to cure prion disease. S. Vallabh.

Hitting your Stride with Work and Life: Balancing a Career in Genetics with Family Life. M. Urbanek.

Sunday, October 19 8:00 AM–9:30 AM 3. Distinguished Speakers Symposium: Separating Signal from Noise Hall B1, Ground Level, Convention Center

Moderators: Cynthia Casson Morton, Brigham and Women’s Hosp/Harvard Med Sch, Andrew S. McCallion, Johns Hopkins Univ, Baltimore

This symposium will address the challenges inherent in the pursuit of genome sequencing/genomic data as a universal diagnostic/ prognostic/therapeutic guide in human disease research and clinical application. This discussion, which will include experts from outside the ASHG community, will highlight the challenges and opportunities presented by big data in the genomics era.

8:00 am Genomic Analytics with IBM Watson. A. Royyuru. IBM Watson Research Center.

8:30 am Lessons from a Mixed Marriage: Big Sequencing Meets Big Data. D. Glazer. Google.

9:00 am Medicine and Public Health. M. Khoury. CDC.

Remember to check the addendum for author changes

10:00 AM–12:00 PMRoom 6DE, Upper Level Room 30, Upper Level Room 29, Upper Leve Room 20D, Upper Level

SESSION 08 – Targeted Drug Therapies for Progressive Genetic DisordersCo-Moderators: Joseph G. Hacia, Univ Southern California, Los Angeles; and Nancy E. Braverman, McGill Univ, Montreal

SESSION 09 – The X-Factor of Complex Disease: From Evolution to Association Studies of the X ChromosomeCo-Moderators: Alon Keinan, Cornell Univ, Ithaca; and Melissa A. Wilson Sayres, Arizona State Univ, Tempe

SESSION 10 – Using Zebrafish to Model Human Genetic Disease VariationCo-Moderators: Barry H. Paw, Brigham and Women’s Hosp, Boston; and Nich-olas Katsanis, Duke Univ, Durham

SESSION 11 – Whole Genome/Ex-ome Sequencing: Patient Expectations, Literacy, and Preferences for Genomic InformationCo-Moderators: Amy L. McGuire, Baylor Col Med, Houston; and Gail Henderson, Univ North Carolina Sch Med, Chapel Hill

Drug screening for genetic disorders: Recent progress and future develop-ments. J. Inglese.

Population genomics of sex chromosome evolution. M. A. Wilson Sayres.

Coupling exome sequencing and functional modeling in neonates. N. Katsanis.

The MedSeq Pilot Project: Patient perspectives from a randomized trial of whole genome sequencing. A. L. McGuire.

Genotype-specific targeted small molecule therapies for cystic fibrosis. B. Ramsey.

Contrasting the impact of natural selection on the X chromosome and autosomes amongst apes. K. R. Veeramah.

From association to mechanism: Using zebrafish to evaluate GWAS loci. D. J. Milan.

The CanSeq Project: Opportunities and challenges of integrating whole exome sequencing into the care of advanced care patients. S. Gray.

Exon skipping and nonsense sup-pressor therapies to treat Duchenne muscular dystrophy. S. F. Nelson.

Methods for association studies of the X chromosome and their application to unraveling its role in autoimmune diseases. A. Keinan.

Zebrafish genome editing tools using random and targeted engineering for individualized medicine applications. S. C. Ekker.

NCGENES: Factors related to expectations for WES testing and decisions to receive incidental findings among a diverse patient population. C. Rini.

Targeting molecular signaling pathways to treat Mendelian disorders with progressive neurologic involvement. M. J. Gambello.

Dosage regulation of the X chromosome: Role of Sex Differences in Health and Disease. C. M. Disteche.

Using zebrafish genetics to discover the developmental basis of human disease. C. B. Moens.

PEDISEQ: Parent perspectives and the inclusion of children in decisions about whole exome sequencing. B. A. Bernhardt.

Exhibits & Posters OpenSunday, October 19

11:00 am - 7:00 pm

Monday, October 20

10:00 am - 4:00 pm

Tuesday, October 2110:00 am - 4:15 pm

Time Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level

1:30 PM SESSION 12 – Patterns and Determinants of Genetic Variation: Recombination, Mutation, and SelectionCo-Moderators: Emilia Huerta-Sanchez and Joseph Pickrell

SESSION 13 – Genomic Studies of AutismCo-Moderators: James S. Sutcliffe and Alex Bassuk

SESSION 14 – Statisti-cal Methods for Pedi-gree-Based StudiesCo-Moderators: Ingrid Borecki and Frances Gagnon

SESSION 15 – Prostate Can-cer: Expression Informing Risk Co-Moderators: Paul Scheet and Amanda E. Toland

SESSION 16 – Variant Calling: What Makes the Difference?Co-Moderators: Deanna M. Church and Aaron Quinlan

1:45 PM 5 Re-engineering meiotic recombination in the mouse. E. Hatton et al.

13 Exome analyses reveal new autism genes in synaptic, transcriptional, and chromatin networks. S. De Rubeis et al.

21 Utilizing rare variants for phasing and imputation in pedigrees. A. Blackburn et al.

29 Functional partitioning of prostate cancer heritability in European Americans and African Americans from AAPC and BPC3 consortia reveals tissue specific regulation. B. Pasaniuc et al.

37 Alignment to an ances-try specific reference ge-nome discovers additional variants among 1000 Genomes ASW Cohort. R. A. Neff et al.

2:00 PM 6 Examining variation in recombination levels in the human female: A test of the production line hypothesis. R. Rowsey et al.

14 Defining the contribution of different classes of de novo mutation to autism. I. Iossifov et al.

22 The “Jackpot” Effect: When do family samples provide more power to detect trait-associated rare variants? S. Feng et al.

30 Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome. M. Du et al.

38 Detecting novel se-quence insertions in 3000 individuals from short read sequencing data. B. Kehr et al.

2:15PM 7 The fine-scale landscape of meiotic gene conversion. A. L. Williams et al.

15 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. M. Uddin et al.

23 Sequence kernel associa-tion test for multivariate quan-titative phenotype in family samples. Q. Yan et al.

31 Genome-wide association study of 35K men with 300K prostate specific antigen measures identifies numerous novel loci: potential for personalized screening for prostate cancer. J. S. Witte et al.

39 SNAP: Fast, accurate sequence alignment enabling biological appli-cations. R. Pandya et al.

2:30 PM 8 Recombination maps for Latino populations based on ancestry inference. S. Shring-arpure et al.

16 The landscape and clinical impact of cryptic structural variation in autism and related neuropsychiatric disorders. H. Brand et al.

24 Genetic network inference in studies of multiple pheno-types from related individuals. J. Marchini et al.

32 Germline sequencing for genetic markers of aggressive prostate carcinoma suscepti-bility. D. Koboldt et al.

40 Precise identification of copy number variants in whole-genome data using median coverage profiles. G. Glusman et al.

2:45 PM 9 The human X chromosome is the target of megabase wide selective sweeps asso-ciated with multi-copy genes expressed in male meiosis and involved in reproductive isolation. M. H. Schierup et al.

17 Diagnostic utility of whole exome sequencing and chromosomal microarray in a clinically well-defined autism spectrum disorder cohort. K. Tammimies et al.

25 G-STRATEGY: Optimal selection of individuals to gen-otype in genetic association studies with related individu-als. M. Wang et al.

33 Identification of candidate target genes for prostate cancer risk-SNPs utilizing a normal prostate tissue eQTL dataset. S. N. Thibodeau et al.

41 Accurate read mapping using a graph-based human pan-genome. W. Lee et al.

3:00 PM 10 New insights on human de novo mutation rate and parental age. W. S. W. Wong et al.

18 Integrative functional genomics following sup-pression of CHD8 identifies transcriptional signatures that are enriched for autism genes and macrocephaly. M. Biagioli et al.

26 Using a population-based linkage analysis approach to identify transcript QTL in skeletal muscle tissues in a founder population. W.-C. Hsueh et al.

34 Association of prostate cancer risk variants with gene expression in normal prostate and tumor tissue. K. L. Pen-ney et al.

42 The impact of GRCh38 on clinical sequencing. D. M. Church et al.

3:15 PM 11 Cholera resistance in Ban-gladesh: Combining signals of ancient, pathogen-driven selection with genome-wide association to understand immune response. E. K. Karlsson et al.

19 Transcriptional con-sequences of 16p11.2 microdeletion/microduplication syndrome in mouse cortex converges on genes and pathways associated with autism and known intellec-tual disability syndromes. I. Blumenthal et al.

27 Testing for disease asso-ciation with rare compound heterozygous and recessive mutations in case-parent sequencing studies. A. Allen et al.

35 Discovery and function-al characterization of an oncogenic PTEN mutation: Implications for personalized cancer genome therapy. H. A. Costa et al.

43 Optimized exome sequencing for discov-ery research: Improved metrics and methods to enhance variant discovery across the biomedical footprint of the genome. M. Pratt et al.

3:30 PM 12 Direct detection of genetic dominance from natural varia-tion in human populations. D. Balick et al.

20 Most genetic risk for autism resides with common variation. J. D. Buxbaum et al.

28 Statistical approaches for rare-variant association testing in affected sibships. M. P. Epstein et al.

36 Convergent Genomics Validates C2orf43 Role in Prostate Cancer. B. B. Cur-rall et al.

44 SpeedSeq: A 24-hour alignment, variant calling, and genome interpretation pipeline. C. Chiang et al.

Sunday, October 19: Concurrent Platform Session A

Remember to check the addendum for author changes

1:30 PM–3:30 PMRoom 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper LevelSESSION 17 – New Genes, Incidental Findings and Un-expected Observations Re-vealed by Exome SequencingCo-Moderators: Joris A. Velt-man and Thomas Meitinger

SESSION 18 – Type 2 Diabe-tes GeneticsCo-Moderators: Maggie Ng and Craig Hanis

SESSION 19 – Genomic Meth-ods in Clinical PracticeCo-Moderators: Yaping Yang and Swaroop Aradhya

SESSION 20 – Genetics and Mechanisms in Neurological DisordersCo-Moderators: Nara Sobreira and Peng Jin

SESSION 21 – Developmen-tal Genetics: Immunodefi-ciencies and Autoimmune DisordersCo-Moderators: Wendy K. Chung and Simon Mallal

45 Genomic sequencing approach identifies novel rare variants in patients with Men-delian neurologic diseases. E. Karaca et al.

53 Genome-wide associa-tion study imputed to 1000 Genomes reveals 18 novel as-sociations with type 2 diabetes. R. A. Scott et al.

61 Discordant non-invasive prenatal testing and cytogenetic results: Is there a cause for concern? J. Wang et al.

69 Mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. H. Hor et al.

77 Parallel studies in humans and dogs implicate ADAMTS20 in cleft lip and palate formation. Z. Wolf et al.

46 Individualized iterative phenotyping for genome-wide analysis of loss of function mu-tations. J. J. Johnston et al.

54 Genome-wide association and exome sequence data analysis for more than 100 traits in Mexican Americans. J. E. Below et al.

62 Implementation of microar-ray analysis for oncology sam-ples: Effectiveness for detection of both copy number changes and copy-neutral loss of hetero-zygosity. S. Schwartz et al.

70 Mitochondrial serine protease HTRA2 p.G399S in a 6-generation kindred with Es-sential Tremor and Parkinson’s Disease. H. Unal Gulsuner et al.

78 Identification of a novel susceptibility locus for non-syndromic cleft lip and palate at chromosome 15q13. K. U. Ludwig et al.

47 Genomic approach identifies novel proteins necessary for inner ear function and develop-ment across multiple species. O. Diaz-Horta et al.

55 Three common recessive variations explain more than 20% of all cases of type 2 diabetes in Greenland. A. Albrechtsen et al.

63 A cost-effective screen for identifying novel transposable element insertions in human genomes. E. M. Kvikstad et al.

71 De novo mutations in SIK1 dysregulate HDAC5-MEF2C activity and cause Ohtahara syndrome and infantile spasms. J. N. Hansen et al.

79 Variants in developmental genes confer risk of hypospadi-as. F. Geller et al.

48 A Drosophila genetic re-source to study human disease genes and its use for gene discovery in human exome data. M. F. Wangler et al.

56 A low frequency AKT2 coding variant enriched in the Finnish population is associated with fasting insulin levels. A. K. Manning et al.

64 NUC-seq: Single-cell exome sequencing using G2/M nuclei. M. L. Leung et al.

72 Haploinsufficiency of Pumilio1 leads to SCA1-like neurodegeneration by increas-ing wild-type Ataxin1 levels in a miRNA-independent manner. V. A. Gennarino et al.

80 Increased frequency of de novo predicted deleterious vari-ants in non-isolated congenital diaphragmatic hernia. L. Yu et al.

49 Genome sequencing identifies major causes of severe intellectual disability. C. Gilissen et al.

57 Association of genetic variants with metabolic traits and multiple disease outcomes to inform therapeutic target validation: Strengths and limita-tions of a GLP1R variant. D. F. Freitag et al.

65 Simple and robust NGS RNA-based assay to assess impact of VUS on splicing. E. Girard et al.

73 Exome sequencing unveils novel disease-causing variation in Charcot-Marie-Tooth disease and suggests genetic burden contributes to phenotypic vari-ability and complex neuropathy. C. Gonzaga-Jauregui et al.

81 A mutation in transferrin receptor 1 that disrupts iron internalization causes a novel immunodeficiency. S. E. Boy-den et al.

50 Assessment of the success rate of two years of large-scale exome sequencing efforts to identify genes for Mendelian conditions at the University of Washington Center for Men-delian Genomics. J. X. Chong et al.

58 Dense fine-mapping reveals FOXA2-bound sites as a ge-nomic marker of type 2 diabetes risk. K. J. Gaulton et al.

66 Making sense of sequence variation in PPARG: A compre-hensive experimental approach. A. Majithia et al.

74 Genome-wide association study identifies common vari-ants associated with general and MMR vaccine-related febrile seizures. B. Feenstra et al.

82 TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and B-cell immunodeficiency. M. Stoffels et al.

51 A comparative analysis of allele frequencies for incidental findings among five populations based on the analyses of 11K whole exome sequences. T. Gambin et al.

59 Integrated analysis of pancreatic islet eQTLs and regulatory state maps identifies putative causal mechanisms at T2D-associated loci. M. van de Bunt et al.

67 Molecular combing for fascioscapulohumeral dystro-phy type 1: Benefits of direct visualization of DNA fibers. C. M. Strom et al.

75 A genome-wide meta-analysis of migraine in more than 59,000 cases and 313,000 controls reveals 29 new loci, increasing the total number of risk loci to 42. P. Gormley et al.

83 COPA mutations disrupt in-tracellular transport and cause a novel autoimmune syndrome characterized by chronic pul-monary disease with pulmonary hemorrhages. W. Wiszniewski et al.

52 Why next-generation se-quencing studies may fail: Chal-lenges and solutions for gene identification in the presence of familial locus heterogeneity. R. L. P. Santos-Cortez et al.

60 T2D-associated ARAP1 reg-ulates GTPase activity, insulin processing and secretion in the pancreatic beta cell. J. R. Kulzer et al.

68 An augmented exome providing accurate structural variant detection. A. Patward-han et al.

76 Brain somatic mutations cause focal cortical dysplasia type II in human and mouse. J. S. Lim et al.

84 Mendelian genetic studies of immune disorders to identify novel targets for therapeutic intervention. J. McElwee et al.

Monday, October 20 8:00 AM–8:25 AM 22. Plenary Abstracts Featured Presentation II Hall B1, Ground Level, Convention Center

Moderator: Kay E. Davies, Univ. Oxford, UK

85/8:00am The Human Knockout Project: systematic discovery of loss-of-function variants in humans. K. J. Karczewski, V. Narasimhan, M. Lek, M. Rivas, S. Balasubramanian, M. Gerstein, B. Keating, T. Lappalainen, A. Palotie, M. Daly, D. van Heel, R. Trembath, R. Durbin, D. G. MacArthur.

Monday, October 20 8:30 AM–8:45 AM 23. ASHG Award for Excellence in Human Genetics Education Presentation Hall B1, Ground Level, Convention Center

The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education.

Introduction:Shawn E. McCandlessCase Western Reserve University

Well-known for her clinical and research leadership in Prader-Willi syndrome, Dr. Cassidy has played key roles in the genetics education of medical students, residents, and trainees as well as of patients and their families. She has developed a variety of educational materials, including three editions of the textbook Management of Genetic Syndromes, and clinical genetics training programs across the country.

Throughout her career, Dr. Cassidy has received numerous honors for her research and teaching, including election to several advisory boards, founding editorship for clinical genetics in the journal Genetics in Medicine, and visiting professorships at institutions in the United States and abroad. She was also a member of the founding Residency Review Committee for Medical Genetics when the field was first recognized as a medical specialty, and has served on the American Board of Medical Genetics and Genomics. She currently serves as president of the International Prader-Willi Syndrome Organisation.

Monday, October 20 8:45 AM–9:00 AM 24. ASHG Victor A. McKusick Leadership Award Presentation Hall B1, Ground Level, Convention Center

ASHG named this prestigious award to honor Dr. Victor A. McKu-sick’s far-reaching contributions to human genetics. The McKusick Leadership Award is presented to an individual whose professional achievements have fostered and enriched the development of human genetics. Recipients of this award exemplify the enduring leadership and vision required to ensure that human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health.

Introduction:Rod R. McInnes Lady Davis Research Institute Jewish General Hospital

Recipient: David Valle, MD

Henry J. Knott Professor and Director, McKusick-Nathans Institute of Genetic Medicine Professor, Departments of Biology and Ophthalmology, Johns Hopkins University School of Medicine

Dr. Valle’s research has focused on the genetic factors underlying human health and disease, including specific genetic diseases as well as the broader gene-protein interactions that contribute to various health conditions. Notable achievements include characterizing the molecular basis of many single-gene disorders, developing mouse models to study human disorders, and analyzing genetic variants associated with psychiatric diseases such as schizophrenia. In addition, he has led efforts to improve genetics education by developing medical genetics curricula; editing the widely-used biochemical genetics textbook The Metabolic and Molecular Bases of Inherited Disease; and directly training more than 500 students, fellows, and clinical residents.

Dr. Valle was inducted into the Institute of Medicine of the National Academy of Sciences in 2002 and named a Fellow of the American Association for the Advancement of Science in 2007. He has received numerous awards for his research and teaching, including the March of Dimes Foundation’s Colonel Harland Sanders Award for Lifetime Achievement in Genetics Research and Education in 2003 and several honorary lectureships.

An ASHG member since 1982, Dr. Valle belonged to ASHG’s Nominating Committee from 1995-1996 and its Awards Committee from 2001-2003, and was Chair of the Awards Committee from 2006-2008. He served on the Editorial Board of The American Journal of Human Genetics from 1989-1991, and since 1992, has co-directed the annual Short Course in Medical and Experimental Mammalian Genetics. In addition, Dr. Valle was part of ASHG’s Board of Directors from 1990-1992 and 2002-2005, including a year as its President in 2003.

Past Recipients: Kurt and Rochelle Hirschhorn (2013); Francis Collins (2012); Leon E. Rosenberg (2011); Charles J. Epstein (2010); Arno G. Motulsky (2009); Victor A. McKusick (2008); Walter Nance (2007); David Rimoin (2006).

Monday, October 20 9:15 AM–9:30 AM 25. ASHG Curt Stern Award Presentation Hall B1, Ground Level, Convention Center

The Curt Stern Award honors the memory of Curt Stern (1902-1981) as an outstanding pioneering human geneticist. This award is presented yearly for outstanding scientific achievements in human genetics that occurred in the first 10 years of a research career, while the recipient is still in an early career stage. The work may be a single major discovery or a series of contributions on a similar or related topic.

Introduction:Michael BoehnkeUniversity of Michigan

Co-Recipient:Gonçalo R. Abecasis, DPhilFelix Moore Collegiate Professor of Biostatistics, University of Michigan School of Public Health

Introduction:Dr Aarno Palotie Massachusetts General Hospital

Co-Recipient: Mark J. Daly, PhD

Associate Professor of Medicine and Chief of the Analytic and Translational Genetics Unit, Massachusetts General Hospital/Harvard Medical SchoolSenior Associate Member, Broad Institute

This year’s Curt Stern Award honors the early-career contributions of two human geneticists, Gonçalo R. Abecasis and Mark J. Daly.

Dr. Abecasis has developed statistical and mathematical methods for the analysis of genetic data that have evolved into standard tools in human genetics. In an era of exponential growth in genetic data, his software helps geneticists analyze studies of families and unrelated individuals, characterize variation among genomes, study connections between genetic variation and human disease, and integrate information across gene-mapping studies. He has also led scientific consortia studying a variety of human traits ranging from obesity and heart disease to age-related vision loss, and is currently using next-generation sequencing technology to study large collections of human genomes.

Dr. Daly has made key advances in the genetic mapping of common diseases, including the development of the first human genome maps of single-nucleotide polymorphisms. He also helped establish a framework for the association of portions of the genome to complex disease risk and the regulation of gene expression. In addition, he has led scientific consortia focusing on genome mapping, inflammatory bowel disease, autism, and schizophrenia, and has contributed to statistical methods and software tools that are routinely used by human geneticists worldwide.

Publisher Thomson-Reuters has listed both Dr. Abecasis and Dr. Daly multiple times among the world’s most cited scientific authors, and they have worked together on the International HapMap Project and the 1000 Genomes Project. Both awardees have also made substantial contributions to ASHG, as longtime members of the Society and frequent presenters at its Annual Meeting.

Past Recipients: John F. Moran (2013); Jay Shendure (2012); David Altshuler (2011); Vivian Cheung (2010); David Haussler and James Kent (2009); Evan Eichler (2008); Jeffrey Murray (2007); Hal Dietz (2006); Patrick Brown (2005).

Monday, October 20 9:30 AM–10:00 AM

26. ASHG William Allan Award PresentationHall B1, Ground Level, Convention Center

The William Allan Award is the top prize given by the American Society of Human Genetics. It was established in 1961 in memory of William Allan (1881-1943), who was one of the first American physicians to conduct extensive research in human genetics. The Allan Award is presented annually to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity.

Introduction:Haig KazazianJohns Hopkins University

Recipient:Stuart H. Orkin, MDDavid G. Nathan Professor of Pediatrics, Harvard Medical SchoolChairman, Department of Pediatric Oncology, Dana-Farber Cancer InstituteAssociate Chief of Hematology/Oncology, Boston Children’s HospitalInvestigator, Howard Hughes Medical Institute

Dr. Orkin has pioneered research into the genetics of blood diseases, including identifying the primary mutations that cause them, defining factors that regulate how these mutations are expressed in blood cells, and applying these findings to medicine. In the 1970s and early 1980s, his laboratory comprehensively defined mutations that lead to the β-thalassemias, and in the mid-1980s, they became the first group to successfully clone a gene causing a disease without already knowing the encoded protein. More recently, Dr. Orkin’s laboratory characterized the switch from fetal to adult hemoglobin, including its regulation and the basis for genetic variation. They are currently exploring ways to anslate these insights into new treatments for thalassemias and sickle cell anemia.

Dr. Orkin was elected to the National Academy of Sciences (NAS) in 1991 and the Institute of Medicine in 1992. In 2005, he received the Association of American Medical Colleges Distinguished Research Award and in 2013, he received the NAS Jessie Stevenson Kovalenko Medal. In addition to his contributions to human genetics, Dr. Orkin is a longtime member of ASHG and has served on the editorial board of The American Journal of Human Genetics.

Past Recipients: Aravinda Chakravarti (2013); Uta Francke (2012); John M. Opitz (2011); Jurg Ott (2010); Huntington F. Willard (2009); Haig Kazazian (2008); Arthur Beaudet (2007); Dorothy Warburton (2006); Francis Collins (2005).

Time Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level

SESSION 27 – Cloudy with a Chance of Big DataCo-Moderators: Paul Flicek and Terry Gaasterland

SESSION 28 – Architec-ture and Impact of Human Knockout AllelesCo-Moderators: Tuuli Lappalainen and Eric Boer-winkle

SESSION 29 – Population Structure, Admixture, and Human HistoryCo-Moderators: Eimear Kenny and Jeff Kidd

SESSION 30 – Neuro-genetics: From Gene to Mechanism (I)Co-Moderators: Stephanie Bielas and Stephan Züchner

SESSION 31 – Cardiovas-cular Genetics I: Single Gene StoriesCo-Moderators: Pinar Bayrak-Toydemir and Eric Villard

10.:30 AM 86 Using compressed data structures to capture varia-tion in thousands of human genomes. S. A. McCarthy et al.

94 Integrated analysis of protein-coding variation in over 90,000 individuals from exome sequencing data. D. G. MacArthur et al.

102 Capture of 390,000 SNPs in dozens of ancient central Europeans reveals a population turnover in Europe thousands of years after the advent of farming. I. Lazaridis et al.

110 Galanin mutations in temporal lobe epilepsy. M. Guipponi et al.

118 Mutations in SGOL1 cause a novel cohesinopa-thy affecting heart and gut rhythm. N. Gosset et al.

10:45 AM 87 Exploring genetic varia-tion and genotypes among millions of genomes. R. M. Layer et al.

95 Identification of a large set of rare complete human knockouts. P. Sulem et al.

103 Insights into British and European population history from ancient DNA sequencing of Iron Age and Anglo-Saxon samples from Hinxton, England. S. Schiffels et al.

111 Homozygous mutations in SLC6A17 are causative for autosomal recessive intellectual disability. H. van Bokhoven et al.

119 Functional character-ization of long-QT syn-drome- and sudden infant death-associated OLFML2B mutations. T. A. Plötz et al.

11:00 AM 88 Databases, genome repositories, and clinical applications to interpret per-sonal genome for precision and preventative therapies. R. Chen.

96 Making sense of non-sense: Consequence of premature stop mutations. S. Balasubramanian et al.

104 Fine-scale population structure in Europe. S. Leslie et al.

112 De novo KCNB1 muta-tions in epileptic encephalop-athy. A. Torkamani et al.

120 EIF2AK4 (GCN2) mutations cause pulmonary veno-occlusive disease, a severe form of pulmonary hypertension. F. Soubrier et al.

11:15 AM 89 DbGaP genotype fingerprint collection. Y. Jin et al.

97 Analysis of stop-gain and frameshift variants in human innate immunity genes. A. Rausell et al.

105 The population structure and demographic history of Sardinia in relationship to neighboring populations. J. Novembre et al.

113 A Drosophila genetic resource facilitates the identification of variants in ANKLE2 in a unique family with severe microcephaly. W.-L. Charng et al.

121 Delineation and ther-apeutic implications of a modifier locus of aortic aneu-rysm in Marfan syndrome. A. Doyle et al.

11:30 AM 90 Integrated analysis of microRNA expression, UTR binding sites, and human variation in ocular tissues. T. Gaasterland et al.

98 Insights into protein truncating variation from high-quality indel calling in 1000 UK population exomes - implications for disease gene discovery and clinical utility. E. Ruark et al.

106 Population structure in African-Americans. S. Gravel et al.

114 Additive toxicity of SOX10 mutation underlies a complex neurological phenotype of PCWH. K. Inoue et al.

122 Mutations in FOXE3/Foxe3 cause familial thoracic aortic aneurysms and dissec-tions. S. Q. Kuang et al.

11:45 AM 91 Second-generation PLINK: Rising to the challenge of larger and richer datasets. C. C. Chang et al.

99 Exome sequencing of fit adults with high parental relatedness identifies over 600 rare human gene knockouts. V. Narasimhan et al.

107 Genetic testing of 400,000 individuals reveals the geography of ancestry in the United States. Y. Wang et al.

115 Paving the road to elaborate the genetics of intellectual disabilities. H. Najmabadi et al.

123 Titin truncations: dissec-tion of genotype and cardiac phenotype. A. Roberts et al.

12:00 PM 92 Microtask crowdsourcing for annotating diseases in PubMed abstracts. A. I. Su et al.

100 Analysis of loss-of-function variants in 8,612 deeply-phenotyped individ-uals identifies novel loci for common chronic disease. A. H. Li et al.

108 Statistical inference of archaic introgression and natural selection in Central African Pygmies. P. Hsieh et al.

116 KIRREL3, associated with intellectual disability and autism, functions as a presynaptic organizer and interacts with proteins with roles in neurodevelopment. A. K. Srivastava et al.

124 FLNC is a novel gene for dilated cardiomyopathy in two families. R. L. Begay et al.

12:15 PM 93 Automating literature reviews: Predicting variant pathogenicity using the bibliomic index. C. A. Cassa et al.

101 Loss-of-function variants influence the human metabo-lome. B. Yu et al.

109 Inferences about human history and natural selection from 280 complete genome sequences from 135 diverse populations. S. Mallick et al.

117 The importance of neurosteroid hormones in the pathogenesis of protocadherin 19 female limited epilepsy and intellectual disability (PC-DH19-FE). J. Gecz et al.

125 Genome-wide associa-tion study on secundum atrial septal defects. L. Rodri-guez-Murillo et al.

Monday, October 20: Concurrent Platform Session B

Remember to check the addendum for author changes

10:30 AM–12:30 PMRoom 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level

SESSION 32 – Molecular Insights into Mendelian DisordersCo-Moderators: Daryl Scott and Ethylin W. Jabs

SESSION 33 – Genomic Alter-ations of TumorsCo-Moderators: John McPher-son and Li Ding

SESSION 34 – Metabolic Disorders: New Diagnostics and Pathogenic InsightsCo-Moderators: Bruce Barshot and Tina Cowan

SESSION 35 – Looking be-tween the Streetlamps: Vari-ant Phasing and ImputationCo-Moderators: Heather Cord-ell and Dale Nyholt

SESSION 36 – Chromatin, Gene Regulation and Expres-sionCo-Moderators: Reid Alisch, and Tony Carra

126 Clinical comparison of Kabuki syndrome with KMT2D and KDM6A mutations. N. Miyake et al.

134 Analysis of mutational landscape and genetic het-erogeneity in liver cancer with whole genome sequencing. A. Fujimoto et al.

142 Novel insights regarding the pathogenesis and treatment of pseudoxanthoma elasticum. S. G. Ziegler et al.

150 A genotype likelihood based phasing and imputation method for massive sample sizes of low-coverage sequencing data. W. Kretzsch-mar et al.

158 Large-scale profiling of sequence variation affecting transcription factor occupancy in vivo. M. T. Maurano et al.

127 Mutations in KMT2D, ZBTB24, and KMT2A in patients with clinical diagnosis of Kabuki syndrome lead to shared epigenetic abnormalities of target genes. N. Sobreira et al.

135 Abundant somatic L1 retrotransposition occurs early during colorectal and pancreatic tumorigenesis. S. Solyom et al.

143 Decipher mitochondrial dis-orders using exome sequenc-ing. R. Kopajtich et al.

151 Imputation server: Next-generation genotype imputation service. C. Fuchs-berger et al.

159 Consider the geneset: Why the transcripts used for variant annotation matter. A. Frankish et al.

128 Noonan syndrome due to RIT1 mutations: Further clinical and molecular delineation in 32 cases. A. Verloes et al.

136 Cis-regulatory drivers in colorectal cancer. H. Ongen et al.

144 Distinct clinical phenotypes in two unrelated patients with mutations in the TRNT1 gene encoding tRNA nucleotidyl transferase. F. Sasarman et al.

152 Improved haplotype phas-ing using identity by descent. B. L. Browning et al.

160 Multi-sample isoform quantification from RNA-seq. A. E. Byrnes et al.

129 Whole exome sequenc-ing in 78 Noonan syndrome individuals identifies two new candidate genes. G. L. Yama-moto et al.

137 Somatic mutations modulate ceRNA drivers of tumorigenesis. J. He et al.

145 Mutation in the tRNA-modi-fication enzyme GTPBP3 caus-es hypertrophic cardiomyopathy with abnormal respiratory chain assembly. M. Metodiev et al.

153 Reducing pervasive false positive identical-by-descent segments detected by large-scale pedigree analysis. E. Y. Durand et al.

161 Characterizing the genetic architecture of gene expression variation in wild baboons via RNA sequencing. X. Zhou et al.

130 NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome. S. Choufani et al.

138 Divergence between high metastatic tumor burden and low circulating tumor DNA concentration in metastasized breast cancer. M. Heidary et al.

146 Application of cellular O-linked glycomics analysis for the diagnosis of protein glyco-sylation disorders. M. He et al.

154 Parente2: A fast and accu-rate method for detecting identity by descent. S. Bercovici et al.

162 Genetic control of chroma-tin in a human population. O. Delaneau et al.

131 A new neurodevelopmental-congenital heart disease syndrome caused by variants in a novel disease gene, TELO2. J. You et al.

139 Extrachromosomal driver mutations in glioblastoma and low grade glioma. S. I. Nikolaev et al.

147 Metabolic diversion to-wards non-toxic metabolites for therapy of primary hyperoxaluria type 1. R. Castello et al.

155 Underdog: A fully-supervised phasing algo-rithm that learns from hundreds of thousands of samples and phases in minutes. K. Noto et al.

163 Chromatin accessibility profiling of developing cerebellar granule neurons reveals novel neuronal enhancers and regula-tory scheme for ZIC transcrip-tion factors. C. L. Frank et al.

132 A novel variant in tenascin-X may be associated with an Ehlers Dan-los phenotype in patients with congenital adrenal hyperplasia. R. Morissette et al.

140 Automated tumor phy-logeny reconstruction using multi-sample deep sequencing somatic variants. V. Popic et al.

148 Transcriptome and microR-NA profiling reveals deregulated microRNAs and mRNAs in the brain of neuronopathic Gaucher disease mice. Y. Sun et al.

156 Fast PCA of very large samples in linear time. K. J. Galinsky et al.

164 Identification and char-acterization of enhancer and target gene pairs in mammalian genomes. Y.-C. Hwang et al.

133 The impairment of MAG-MAS function in humans is re-sponsible for a severe skeletal dysplasia. C. Mehawej et al.

141 Development and valida-tion of a ultra-high depth FFPE targeted exome sequencing platform for routine cancer patient care. K. Chen et al.

149 A mouse model of cblA class isolated methylmalonic acidemia displays reduced survival, growth failure, renal disease and secondary mito-chondrial dysfunction. M. W. Epping et al.

157 Fast detection of IBD seg-ments associated with quan-titative traits in genome-wide association studies. Z. Wang et al.

165 Domains of genome-wide gene expression dysregulation in Down syndrome. S. E. Antonarakis et al.

Monday, October 20: Concurrent Platform Session CTime Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level

SESSION 37 – From Bytes To PhenotypesCo-Moderators: Ada Hamosh and Steven E. Brenner

SESSION 38 – Rare Muta-tions, Well DoneCo-Moderators: Doug Kiel and Gina Peloso

SESSION 39 – Cardiovas-cular Genetics II: Genetic Discovery and Character-izationCo-Moderators: Alex Reiner and Hooman Allayee

SESSION 40 – Genetics of Complex Neuropsychiatric DisordersCo-Moderators: Minerva Car-rasquillo and Tao Wang

SESSION 41 – Statistical Methods for Population Based StudiesCo-Moderators: Peter N. Robinson and John Witte

4:30 PM 166 Investigation of syn-thetic association in GWAS using pheWAS and exome sequencing. L. Bastarache et al.

174 The UG2G initiative: A study of disease susceptibil-ity in 7000 individuals from Uganda using whole genome sequencing and genotyping approaches. D. Gurdasani et al.

182 Increased frequency of de novo copy number variations in congenital heart disease by integrative analysis of SNP array and exome sequence data. J. T. Glessner et al.

190 Vertical transmission of autism spectrum disorder. N. Risch et al.

198 Leveraging genetic variation from over 55,000 exomes to explore patterns of functional constraint on human protein-coding genes. K. Samocha et al.

4:45 PM 167 Beware of circularity: A critical assessment of the state of the art in deleterious-ness prediction of missense variants. C. A. Azencott et al.

175 Long-range haplotype mapping in Hispanic/Latinos reveals loci for short stature. G. Belbin et al.

183 Context-specific eQTLs implicate differential genomic regulatory mechanisms in obese and lean Finns. A. Ko et al.

191 Epidemiological and genomic studies suggest a significant effect of comor-bidity of intellectual disability towards estimates of autism prevalence. S. Girirajan et al.

199 Unveiling the genetic architectures of rare coding variants in blood lipids levels via large scale meta-analysis. D. Liu.

5:00 PM 168 Application of clinical text data for phenome-wide association studies. S. J. Hebbring et al.

176 A haplotype reference panel of over 31,000 indi-viduals and next-generation imputation methods. S. Das.

184 Use of low read depth whole genome sequence data to examine the genomic architecture of commonly measured lipid sub-fractions: The UK10K study. J. Huang et al.

192 Partial deletion of the monoamine oxidase A (MAOA) gene in a three-gen-eration family with two severely affected intellectually disabled males and a healthy female carrier. N. de Leeuw et al.

200 Efficient Bayesian mixed model analysis increases association power in large cohorts. P. Loh et al.

5:15 PM 169 The warped linear mixed model: Finding optimal phenotype transformations yields a substantial increase in signal in genetic analyses. N. Fusi et al.

177 A rare variant local haplotype sharing method with application to admixed populations. S. Hooker et al.

185 Population-specific impu-tations identify a deleterious coding variant in ABCA6 associated with cholesterol levels: The genome of the Netherlands. C. M. Van Duijn et al.

193 A Drosophila model for 16p11.2 deletion shows differential sensitivity to gene dosage. J. Iyer et al.

201 Recent demography and natural selection hamper power of rare variant association tests. L. H. Uric-chio et al.

5:30 PM 170 PhenomeCentral: An integrated portal for sharing patient phenotype and genotype data for rare genetic disorders. M. Brudno et al.

178 Rare mutations associating with serum creatinine and chronic kidney disease. G. Sveinbjornsson et al.

186 Null alleles at NPC1L1, the therapeutic target for the LDL-lowering drug ezetimibe, and protection from coronary heart disease. N. Stitziel et al.

194 The discovery of integrat-ed gene networks for autism. O. Penn et al.

202 A statistical framework to leverage broad metabolite data in elucidating the associ-ations between genetics and disease. C. Churchhouse.

5:45 PM 171 Facilitating the inter-pretation of rare pathogenic variation in a clinical setting with DECIPHER. G. J. Swa-minathan et al.

179 Rare coding variants in collagen genes increase risk of adolescent idiopathic scoliosis. G. Haller et al.

187 Trans-ethnic ge-nome-wide association study identifies 15 new genetic loci influencing blood pressure traits and implicates a role for DNA methylation: the In-ternational Genetics of Blood Pressure Study. M. Loh et al.

195 Transcriptome sequenc-ing of human aging brain tissue uncovers widespread genetic effects on splicing alternations in Alzheimer’s disease. T. Raj et al.

203 Prioritizing functional variants in genetic associ-ation studies. S. Sengupta et al.

6:00 PM 172 GeneMatcher: A match-ing tool for identification of individuals with mutations in the same gene. A. Hamosh et al.

180 Rare coding variants are associated with osteoporotic fracture: A large-scale ex-ome-chip analysis of 44,130 adult Caucasian men and women in CHARGE and GE-FOS consortia. Y. Hsu et al.

188 Pathologically different than coronary artery disease, myocardial infarction has a minimal heritable component. B. Horne et al.

196 Exome array analysis of 30,582 individuals confirms late-onset Alzheimer’s dis-ease (LOAD) risk from com-mon variants and identifies novel rare LOAD susceptibil-ity variants: The International Genomics of Alzheimer’s Project. A. C. Naj et al.

204 A practical guide to study design, sample size requirements and statistical analyses methods for rare variant disease association studies. S. M. Leal et al.

6:15PM 173 Findings from the Critical Assessment of Genome Interpretation, a communi-ty experiment to evaluate phenotype prediction. S. E. Brenner et al.

181 Exploring the role of rare and low-frequency coding variants in adult height using an ExomeChip. M. Graff et al.

189 Is type 2 diabetes a causal risk factor for coronary artery disease? Multivariate Mendelian randomization to test causal relationships among cardiometabolic traits. R. Do et al.

197 Low-frequency variant imputation identifies rare variant candidate loci in a genome-wide association study of late-onset Alzheimer disease. K. L. Hamilton et al.

205 A logistic mixed model approach to obtain a reduced model score for KBAC to adjust for population structure and relatedness between samples. G. Linse Peterson et al.

Remember to check the addendum for author changes

4:30 PM–6:30 PMRoom 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level

SESSION 42 – Genome Varia-tion and its Impact on Autism and Brain DevelopmentCo-Moderators: Sébastien Jac-qemont and Xander Nuttle

SESSION 43 – ELSI Issues in GeneticsCo-Moderators: James O’Leary and Jennifer McCormick

SESSION 44 – Prenatal, Perinatal, and Reproductive Genetics Co-Moderators: Lee P. Shulman and Nancy Rose

SESSION 45 – Advances in Defining the Molecular Mechanisms of Mendelian Disorders Co-Moderators: Megan Dennis and Ken Inoue

SESSION 46 – Epigenomics of Normal Populations and Disease StatesCo-Moderators: Anshul Kudaje and Carolyn Brown

206 A chromosome imbalance map of the human genome. M. Zarrei et al.

214 The expansion of NIH’s genomic data sharing policy. E. Luetkemeier et al.

222 Discovery and in vivo ex-perimental validation of a novel, non-meiotic pathway governing production of spermatozoa and oocytes in human. A. S. Lee et al.

230 Mutations in RPL17 expand the molecular basis of Diamond-Blackfan anemia and guide insights into unique biochemical signatures under-scoring ribosomopathies. E. E. Davis et al.

238 Genetic basis and function-al consequences of chromatin state variability across individu-als. F. Grubert et al.

207 Detection of known ge-nomic regions and intragenic copy-number changes by an expanded exon-targeted array with comprehensive coverage of genes implicated in autism spectrum disorders and intel-lectual disability. S. W. Cheung et al.

215 Data sharing and dbGaP: A survey of practices and opin-ions among human geneticists. D. Kaufman et al.

223 Complex dynamics of meiotic recombination initiation in laboratory mouse strains. K. Brick et al.

231 Digenic inheritance in Alport syndrome. M. Mencarelli et al.

239 Integration of 111 reference human epigenomes helps interpret the molecular basis of complex traits and disease. M. Kellis.

208 Identification of pathogenic CNVs in a simplex autism cohort and measure-ment of effect size on cognitive, adaptive, and social function. A. E. Hare et al.

216 Experience with obtaining informed consent for genomic sequencing: Developing recommendations for best prac-tices. B. A. Bernhardt et al.

224 Bringing homologs together: Sex- and species-spe-cific differences in synapsis. J. Gruhn et al.

232 PCBD1 and diabetes: A novel player with direct impli-cations for therapy. D. Simaite et al.

240 An imprinting map of the human placenta based on the application of a novel population genetics approach to RNAseq data. C. T. Watson et al.

209 Autism ten thousand genomes (AUT10K) project: A roadmap for the complete genetic landscape of autism spectrum disorder. S. W. Scherer et al.

217 Developing a patient facing genome sequencing report: Results of key informant inter-views. J. L. Williams et al.

225 Targeted resequencing identifies mutant selfish clones within the testis and unifies the concepts of somatic and germline mutation. G. J. Maher et al.

233 The Ankrd11 mutation in the Yoda mouse mirrors the human gene defect and provides new insights into KBG syndrome. K. Walz et al.

241 Tissue-specific patterns of imprinting revealed by analysis of monoallelic expression in human populations. T. Lappa-lainen et al.

210 The identification of novel autism pathogenicity genes and their associated phenotypes. H. A. F. Stessman et al.

218 Use of My46 to return individual research results to families of children with Joubert syndrome. S. M. Jamal et al.

226 Prevalence of pathogen-ic copy number variants for specific ultrasound detected structural abnormalities using prenatal chromosomal microar-ray in a multi-center cohort. T. Leung et al.

234 Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal reces-sive disorder of skeletal devel-opment. S. Symoens et al.

242 Population-scale and single-cell RNA sequencing provides insight into X chromosome inactivation. T. Tukiainen et al.

211 The 16p11.2 locus modu-lates brain structures common to autism, schizophrenia and obesity. S. Jacquemont et al.

219 Patient preferences for the return of individual research results derived from pediatric biobank samples. S. Savage et al.

227 Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: Out-comes, benefits and challeng-es. T. Sahoo et al.

235 Mutations in KITLG, encoding KIT ligand, cause unilateral hearing loss. C. Zazo Seco et al.

243 Cis-methylation quan-titative trait loci mapping of chromosome 15q25.1 in human brain reveals novel genetic associations with nicotine dependence. D. B. Hancock et al.

212 Distinct properties of de novo mutations from whole genome sequencing of 50 patient-parent trios. M. Pinelli et al.

220 Weapons, boxes, and credit reports: Metaphorical language in discussions of receiving exome and whole genome sequencing results. S. C. Nelson et al.

228 Genomic augmentation of newborn screening. B. Solo-mon et al.

236 Molecular pathogenesis of tuberous sclerosis complex (TSC) in patients with no muta-tion identified in TSC1 or TSC2. M. E. Tyburczy et al.

244 Joint methylome-and ge-nome-wide association studies in blood and brain identifies new disease mechanisms for schizophrenia. E. J. C. G. Van den Oord et al.

213 Human frontal cortex is enriched for somatic variations under physiological oxidative stress compared to the corpus callosum from same individu-als. A. Mukhopadhyay et al.

221 Clinical integration of next-generation sequencing: A policy analysis. A. L. McGuire et al.

229 CETN1 variations cause idiopathic male infertility. D. V. S. Sudhakar et al.

237 RAB11FIP1 interacts with the BLOC-1 complex to retrieve melanogenic proteins from the recycling pathway and a dominant negative mutation in RAB11FIP1 causes Her-manksy-Pudlak syndrome type 10. A. R. Cullinane et al.

245 Whole genome bisulfite sequencing of acute l ymphoblastic leukemia cells. P. Wahlberg et al.

Tuesday, October 21 8:00 AM–8:25 AM

47. Plenary Abstracts Featured Presentation III Hall B1, Ground Level, Convention Center

Moderator: John Novembre, Univ Chicago

246/8:00 Completion of the 1000 Genomes Project: Results, lessons learned and open questions. G. Abecasis, 1000 Genomes Project

Tuesday, October 21 8:30 AM–10:00 AM

48. ASHG/ESHG Building Bridges Session:Towards Finding Global Agreement on Topical Discussions in Genetics: Evolving Uncertainties in Genomic Medicine Hall B1, Ground Level, Convention Center

Moderator: Barbara Biesecker, NHGRI/NIHIntroduction: Cynthia Morton, ASHG President

History of uncertainty in genomic medicine. Reed Pyeritz, Univ. of Pennsylvania. A taxonomy of uncertainty for clinical genomics. Les Biesecker, NIHConceptualizing and communicating uncertainty. Paul Han, Maine Med. Ctr. Res. Inst.Uncertainties in consenting to participate in sequencing studies and receive results. Barbara Biesecker, NIHManaging the ambiguity and complexity of genome sequencing. Aad Tibben, Leiden Univ. Med. Ctr.

This “Building Bridges” session is the second in a continuing series conducted in conjunction with the European Society of Human Genetics. The first session, held in Milan in June 2014, focused on incidental findings in WGS and WES.

Time Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level

SESSION 49 – Detailing the Parts List Using Genomic StudiesCo-Moderators: Meredith L. Carpenter and Kristin Ardlie

SESSION 50 – Statistical Methods for Multigene, Gene Interaction and Path-way AnalysesCo-Moderators: Marcella Devot and David Conti

SESSION 51 – Neuro-genetics: From Gene to Mechanism (II)Co-Moderators: Mustafa Tekin and Alessandra Renieri

SESSION 52 – Contribu-tion of Common and Rare Variation to Obesity-Relat-ed TraitsCo-Moderators: Anne Jus-ticeand Cecilia Lindgren

SESSION 53 – The Dynam-ic Genome: Structural and Somatic VariationCo-Moderators: Alexander and Santhosh Girirajan

10:30 AM 247 Inferring the functional effects of non-synonymous variants using experimental results from deep mutational scanning. R. J. Hause et al.

255 Novel kernel methods for detecting gene-environment interaction. K. A. Broadaway et al.

263 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with ax-oglial defects. J. Melki et al.

271 GWAS meta-analysis of ten studies identifies five novel loci associated with gallstone disease in Europe-an ancestry individuals. A. D. Joshi et al.

279 Origin, frequency and functional impact of de novo structural changes in the human genome. K. Ye et al.

10:45 AM 248 Context-specific regu-latory networks identify key regulators of complex traits. G. Quon et al.

256 Gene-environment dependence creates spurious gene-environment interac-tion. F. Dudbridge et al.

264 A mutation in TMTC2 reveals a new mechanism causing sensorineural hear-ing loss. M. Olivier et al.

272 Association analyses of 100,720 individuals reveal new loci associated with body fat percentage provid-ing new insights in related cardiometabolic traits. Y. Lu et al.

280 Parental somatic mosaicism contributes an under-recognized source of potentially recurrent new mutations. I. M. Campbell et al.

11:00 AM 249 Allele-specific alternative splicing in diploid human genomes. N. Raghupathy et al.

257 Discovery of gene-en-vironment and epistatic interactions affecting gene expression in the TwinsUK cohort via association map-ping of variance and mono-zygotic twin discordance. A. Brown et al.

265 Understanding patho-genesis of lissencephaly with patient-derived induced pluripotent stem cells. M. Bershteyn et al.

273 Genome-wide analysis in Africans provides novel insight into the genetic basis of the metabolic syndrome. F. Tekola-Ayele et al.

281 Analysis of the genetic variation and age effects on gene expression using RNA-seq data from multiple tissues. A. Viñuela et al.

11:15 AM 250 Developing a high-throughput CRIS-PR-based assay for satura-tion mutagenesis of human genes. M. L. Carpenter et al.

258 A statistical approach to distinguish genetic pleiotropy from clinical heterogeneity: Application to autoimmune diseases. B. Han et al.

266 Hypomorphic PCNA mutation underlies a novel human DNA repair disorder. E. L. Baple et al.

274 Contribution of low-fre-quency variants to variation in body mass index. V. Turcot et al.

282 Dynamics of personal omics profiles during periods of health, disease, weight gain and loss. M. Snyder et al.

11:30 AM 251 Transcriptome-wide nuclease-mediated protein footprinting to identify RNA-protein interaction sites. I. Silverman et al.

259 Analysis of variants obtained through whole-ge-nome sequencing provides an alternative explanation to apparent epistasis. A. R. Wood et al.

267 Profound neuropathy target esterase impairment results in Oliver-McFarlane syndrome. R. B. Hufnagel et al.

275 Genome-wide identifica-tion of novel genetic variants associated with erythrocyte membrane fatty acids. A. E. Locke et al.

283 Longitudinal study of whole blood transcriptomes in a twin cohort. J. Bryois et al.

11:15 AM 252 Epigenome imputa-tion leads to higher-quality datasets and helps improve GWAS interpretation. J. Ernst et al.

260 A joint testing framework uncovers paradoxical SNPs, improves power, and identi-fies new sources of missing heritability in association studies. B. C. Brown et al.

268 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involve-ment. V. Paquis et al.

276 Filtering for genomic nonsense to find biological significance: SLC13A1 nonsense variants enriched in a founder population are associated with reduced serum sulfate and increased aspartate aminotransferase levels. C. G. Perry et al.

284 High-throughput deter-mination of long interspersed element-1 integration prefer-ences in the human genome. D. A. Flasch et al.

12:00 PM 253 Conservation of mammalian trans-regula-tory circuitry under high cis-regulatory turnover. A. B. Stergachis et al.

261 Valid permutation testing in the presence of polygenic variation. M. Abney.

269 Comprehensive inves-tigation of CASK and other relevant genes in 41 patients with intellectual disability, microcephaly and dispropor-tionate pontine and cerebellar hypoplasia (MICPCH) using next-generation sequencing. S. Hayashi et al.

277 Integrating metabolite, BMI and genetic data in phenotypic extremes, drawn from a population of 50,000 samples, to assess causality of metabolite levels in obesi-ty. T. Esko et al.

285 Cryptic splicing adverse-ly affects LINE-1 retrotrans-position. P. A. Larson et al.

12:15 PM 254 A regulatory DNA association study between autoimmune disease risk and variation in regulatory regions that are highly unique to adaptive immune cells. A. Madar et al.

262 Sparse Bayesian latent factor decompositions for identifying trans-eQTLs. V. Hore et al.

270 ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside me-tabolism. P. Bonnen et al.

278 Systems genetics analyses of human adipose tissue gene expression iden-tify cis and trans regulatory networks for cardio-metabolic traits. M. Civelek et al.

286 Discovery of a novel retrotransposon family in the Callithrix jacchus genome. M. K. Konkel et al.

Tuesday, October 21: Concurrent Platform Session D

Remember to check the addendum for author changes

10:30 AM–12:30 PMRoom 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level

SESSION 54 – Expanding Clinical PhenotypesCo-Moderators: Ozlem Goker-Alpan and Mitzi L. Murray

SESSION 55 – Cancer Sus-ceptibility Genes: Identifica-tion and ImplementationCo-Moderators: Ephrat Levy-Lahad and Matt Deardorff

SESSION 56 – Balanced and Unbalanced Chromosomal RearrangementsCo-Moderators: Terry J. Has-sold and Christa L. Martin

SESSION 57 – Diagnostic Yield of New Genomic Tech-nologiesCo-Moderators: Heidi Rehm, and Lee Jun C. Wong

SESSION 58 – Genetic/Genomic Education and Services DeliveryCo-Moderators: Arti Pandya, and Kevin Sweet

287 Comprehensive phenotypic analysis of 19 individuals with Goltz syndrome (focal dermal hypoplasia). V. Sutton et al.

295 Mosaic loss of chromo-some Y in blood cells is asso-ciated with shorter survival and higher risk of cancer in men. L. A. Forsberg et al.

303 An evidence-based dosage sensitivity map towards defining the clinical genome. E. Riggs et al.

311 Prenatal whole genome SNP array diagnosis as a first-line test: nature and prevalence of abnormal results in pheno-typically normal and abnormal fetuses. F. A. T. de Vries et al.

319 Clinician CME tailored to individual patient's whole exome results. M. A. Giovanni et al.

288 Multiple symmetric lipomatosis – new aspects of a forgotten syndrome. J. Schreml et al.

296 Genetic heritability of com-mon non-Hodgkin lymphoma subtypes. S. I. Berndt et al.

304 Next-generation sequenc-ing of duplication CNVs reveals that most are tandem and some disrupt genes at breakpoints. K. Rudd et al.

312 The clinical utility of molec-ular genetic testing strategies for the diagnosis of mitochon-drial disorders. R. Bai et al.

320 Changing the landscape of genomics education through a massive open online course: Genomic medicine gets person-al. B. R. Haddad et al.

289 Obstetric and gynecologic health in patients with xeroder-ma pigmentosum. M. Merideth et al.

297 A genome-wide scan identifies NFIB as important for metastasis in osteosarcoma patients. L. Mirabello et al.

305 Balanced chromosome re-arrangements rapidly annotate the morbid human genome. T. Kammin et al.

313 Pathogenic variant spec-trum in newly described cancer genes on next-generation can-cer panels. L. Susswein et al.

321 Genome: Unlocking life’s code – a museum exhibition as a model for informal genomics education. V. Bonham et al.

290 Adams-Oliver syndrome: Refining the diagnostic pheno-type. S. Hassed et al.

298 Enrichment of colorectal cancer associations in function-al regions: Insight for combining ENCODE and Roadmap Epig-enomics data in the analysis of whole genome sequencing-im-puted GWAS. S. Rosse et al.

306 The perplexing prevalence of familial nested 22q11.2 deletions. D. M. McDonald-Mc-Ginn et al.

314 Exome sequencing for the diagnosis of 46,XY disorders of sex development. E. C. Delot et al.

322 Human Genetics: Medical and Societal Implications. A high school course taught on a medical school campus. M. Godfrey et al.

291 Alpha-fetoprotein assay on dried blood spot for hepato-blastoma screening in children with Beckwith-Wiedemann syndrome and isolated hemihy-perplasia. A. Mussa et al.

299 Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in patients with colorectal adenomas and carcinomas. I. Spier et al.

307 9q33.3q34.11 microdele-tion: Delineation of a new contiguous gene syndrome including the STXBP1, LMX1B and ENG genes using reverse phenotyping. S. Nambot et al.

315 Clinical exomes for hearing loss: Surprising diagnoses and better yields. L. H. Hoefsloot et al.

323 Whole genome sequenc-ing in a healthy population: Processes, challenges, and insights. C.S. Richards et al.

292 Clinical and radiographic study of 93 patients with a molecularly proven non-lethal type 2 collagen disorder. G. R. Mortier et al.

300 Impact of genetic testing on reducing colorectal cancer. D. W. Neklason et al.

308 Alu-enriched genomic structure facilitates chromo-some 17p13.3 region suscep-tibility to diverse and complex pathogenic copy number variations. S. Gu et al.

316 De novo mutations iden-tified in clinical whole exome sequencing. S. Pan et al.

324 Patient perceptions about the utility of family history review during whole genome sequencing: Initial findings from the MedSeq Study. K. D. Christensen et al.

293 Diagnostic criteria for Stick-ler syndrome based on compre-hensive clinical and molecular analysis. F. Acke et al.

301 Performance of multi-gene panels for familial cancer screening in clinical cases: The ColoSeq and BROCA experi-ence. B. H. Shirts et al.

309 Decoding NF1 intragenic copy number changes. M. Hsiao et al.

317 Frequency of “ACMG-56” variants in whole genomes of healthy elderly. L. Ariniello et al.

325 Hereditary cancer com-munication with underserved patients. G. Joseph et al.

294 Updated cardiac descrip-tion in Loeys Dietz syndrome. G. L. Oswald et al.

302 Unanticipated germline cancer susceptibility mutations identified by clinical exome sequencing of sequentially diagnosed pediatric solid tumor patients: The BASIC3 study. S. E. Plon et al.

310 De novo DYRK1A point mutations cause similar phenotypes to those observed in microdeletions including 21q22.13: Further evidence for DYRK1A’s critical role in brain development. J. Ji et al.

318 Exploring the diagnostic yield of whole exome sequenc-ing in a broad range of genetic conditions: The first 200 cases in the NCGENES study. N. T. Strande et al.

326 Cost effectiveness of adding genes to next-gener-ation sequencing panels for evaluation of colorectal cancer and polyposis syndromes. C. J. Gallego et al.

Time Hall B1, Ground Level Room 6AB, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level Room 20A, Upper Level

SSESSION 59 – We Have the Technology: Next-Gen-eration Genomic MethodsCo-Moderators: Melissa Gymrek and Jay Shendure

SESSION 60 – Hereditary Breast-Ovarian CancerCo-Moderators: Tom Walsh and Sam Hanash

SESSESSION 61 – Genom-ic Studies of Schizophrenia and Bipolar DisorderCo-Moderators: Michael Epstein and Laura Scott

SESSION 62 – From Association to Function in Complex TraitsCo-Moderators: Kyle Gaulton and Nadav Ahituv

SESSION 63 – Therapy for Genetic DisordersCo-Moderators: Gerald Raymond and Michael J. Gambello

4:30 PM 327 Whole-genome sin-gle-cell haplotyping, a gener-ic method for preimplantation genetic diagnosis. M. Zamani Esteki et al.

335 Constitutional BRCA1 methylation is a major predis-position factor for high-grade serous ovarian cancer. A. Dobrovic et al.

343 Emerging patterns of schizophrenia risk conferred by de novo mutation. D. Howrigan et al.

351 Partitioning heritability by functional category using summary statistics. H. Finu-cane et al.

359 Targeting calpains: A therapeutic strategy for the treatment of TGFβ-mediated mesenchymal transition and associated pathologies. D. Kim et al.

4:45 PM 328 Targeted locus amplifi-cation for hypothesis neutral next-generation sequencing and haplotyping of selected genomic loci. M. J. van Min et al.

336 Candidate causal vari-ants from three independent genetic signals at the 5q11.2 breast cancer risk locus regulate MAP3K1. D. M. Glubb et al.

344 Discoveries from a ge-nome-wide analysis of CNVs in the PGC study of schizo-phrenia. J. Sebat et al.

352 Identification of multiple regulatory variants at the GALNT2 human high-density lipoprotein cholesterol locus. T. S. Roman et al.

360 Metabolic regulation by the MeCP2/HDAC3 transcrip-tional corepressor complex points to new therapeutic targets in Rett syndrome. S. M. Kyle et al.

5:00 PM 329 Saturation genome edit-ing by multiplex homologous donor repair. G. M. Findlay et al.

337 A profile of inherited pre-disposition to breast cancer among Nigerian women. Y. Zheng et al.

345 A functional role for non-coding variation in schizophrenia genome-wide significant loci. P. Sklar et al.

353 A PAX1enhancer locus increases risk of idiopathic scoliosis in females. C. Wise et al.

361 Increasing IKAP ex-pression by mRNA splicing modification improves phenotype in a mouse model of familial dysautonomia. E. Morini et al.

5:15 PM 330 Metagenomic deconvo-lution and species discovery in microbiomes using contact probability maps. J. N. Bur-ton et al.

338 Estimates for inherited mutations in breast cancer susceptibility genes among triple-negative breast cancer patients. F. Couch et al.

346 Comprehensive, integrative and hypothe-sis-free pathway analysis of genome-wide association data highlights synaptic transmission, dendritic spines and the post-synaptic density in schizophrenia. T. H. Pers et al.

354 Characterization of the type 2 diabetes-associated KLF14 trans-regulatory net-work. K. Small et al.

362 Impact of early hormonal therapy on the neurobehav-ioral profile of boys with 47, XXY (Klinefelter syndrome) at 9 years of age. C. Saman-go-Sprouse et al.

5:30 PM 331 Deep whole-genome sequencing based analysis of mosaic transposable mobile element insertions in adult human tissue. X. Zhu et al.

339 Inherited mutations in ovarian cancer - PALB2 and BARD1 are likely ovarian cancer susceptibility genes. B. Norquist et al.

347 Integrating network analyses and genetics with large-scale RNA-sequencing of schizophrenia brains. M. Fromer.

355 mRNA-seq of 278 diverse skeletal muscle biopsies reveals mechanistic insights about type 2 diabe-tes genetic risk and identifies disease state specific eQTLs. J. R. Huyghe et al.

363 A causative role for oxy-tocin in pregnancy-induced aortic dissection in Marfan syndrome mouse models. J. P. Habashi et al.

5:45 PM 332 Increased complexity of the human genome revealed by single-molecule sequenc-ing. M. J. P. Chaisson et al.

340 Implementing PALB2 gene testing in breast and ovarian cancer patients in UK. N. Rahman et al.

348 RNAseq transcriptome study implicates immune-re-lated genes in schizophrenia. A. R. Sanders et al.

356 Genetic analyses of hepatic steatosis GWAS as-sociated loci. E. K. Speliotes et al.

364 Most participants in the agalsidase beta phase 3 clinical trial in patients with classic Fabry disease experienced no severe clinical events during a 10-year follow-up period. D. P. Germain et al.

6:00 PM 333 In situ genome-wide ex-pression profiling of individual cell types. C. Kodira et al.

341 Functional variant assays for predicting breast cancer risks of genetic variants in the DNA dou-ble-stranded break repair pathway. H. Ostrer et al.

349 A rare regulatory non-coding variant in GWAS-im-plicated MIR137/MIR2682 locus potentially confers risk to both schizophrenia and bipolar disorder. J. Duan et al.

357 FOXO3 regulates fetal hemoglobin levels in sickle cell anemia. V. Sheehan et al.

365 ENGAGE: A phase 3, randomized, double blind, placebo-controlled, multi-cen-ter study to investigate the efficacy and safety of eli-glustat in adults with Gaucher disease type 1: 18-month results. M. Balwani et al.

6:15 PM 334 Whole-genome sequenc-ing characterizes multiple mutational mechanisms resulting from off-target effects of CRISPR-Cas9 and TALEN treatments in human embryonic stem cells. R. L. Collins et al.

342 Genome-wide associa-tion study of progression-free survival in ovarian cancer pa-tients treated with carboplatin and paclitaxel identifies an enhancer that regulates three nearby genes. G. Chene-vix-Trench et al.

350 GWAS of bipolar 1 dis-order in a multi-ethnic cohort of 72,823 identifies four novel loci. C. Schaefer et al.

358 Susceptibility to tuber-culosis is associated with the ASAP1 gene that regulates dendritic cell migration. Y. Luo et al.

366 Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vita-min B3. N. Khan et al.

Tuesday, October 21: Concurrent Platform Session E

Remember to check the addendum for author changes

4:30 PM–6:30 PM Room 20BC, Upper Level Room 20D, Upper Level Room 28, Upper Level Room 29, Upper Level Room 30, Upper Level

SESSION 64 – Exome Se-quencing as Standard of Care in Clinical GeneticsCo-Moderators: Livija Medne and Carol Saunders

SESSION 65 – Beyond the Sequence: Genomic Regula-tion and DiseaseCo-Moderators: Stephen Meyn and Peter Scacheri

SESSION 66 – A Clear Vision for Genetic Eye DiseasesCo-Moderators: Lucia Sobrin Cambridge and Anand Swaroop

SESSION 67 – Autoimmune Genes: Discovery & FunctionCo-Moderators: Yukinoki Okada and Lisa Barcellos

SESSION 68 – Pharmacoge-netics: From Association to ActionCo-Moderators: Bill Nyhan and Cornelia Van Duijn

367 Transition from clinically fully validated panels to medi-cally relevant exome. L. Wong et al.

375 The role of TET1-mediated demethylation in gene regula-tion and memory formation. A. J. Towers et al.

383 Genome-wide analysis of mitochondrial single nucleotide polymorphism (mtSNP)-nuclear SNP interaction in age-related macular degeneration. P. J. Persad et al.

391 A trans-ethnic ge-nome-wide association study of 21,483 cases and 97,977 controls identifies 27 genetic susceptibility variants for atopic dermatitis. L. Paternoster et al.

399 Clozapine-induced agran-ulocytosis/granulocytopenia is associated with rare HLA-DQB1 and HLA-B alleles. J. I. Gold-stein et al.

368 How well do whole exome sequencing results correlate with clinical findings? A study of 89 Mayo Clinic biobank samples. S. Middha et al.

376 DNA methylation in the central nucleus of the amygdala contributes to anxious temper-ament in young primates. R. S. Alisch et al.

384 Unravelling the complex genetics of age-related macular degeneration — The Interna-tional AMD Genomics Consor-tium. V. Cipriani.

392 Trans-ancestral Immuno-Chip: SLE risk loci show enrich-ment for NK cytotoxicity and cell adhesion pathways. D. S. Cunninghame Graham et al.

400 New susceptibility gene IKZF1 for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement. M. Ueta et al.

369 Clinical whole exome sequencing reveals contribu-tion of rare genetic events to undiagnosed disease. C. M. Eng et al.

377 MicroRNA-486 overexpres-sion delays the disease pathol-ogy of muscular dystrophy. M. S. Alexander et al.

385 Whole-genome sequencing study of ~6,000 samples for age-related macular degenera-tion. A. Kwong et al.

393 Eight amino acid positions in five HLA class I and II genes explain the MHC association to type 1 diabetes risk. X. Hu et al.

401 Prospective participant selection and ranking to max-imize actionable PGx variants and discovery in the eMERGE Network. D. Crosslin et al.

370 Clinical exome sequencing at UCLA: Diagnosis rate, vari-ant spectrum and novel gene discoveries. H. Lee et al.

378 Mutations in nuclear en-velope change myogenic epig-enomic programs and normal cell fate. J. Perovanovic et al.

386 Examining the casual role of central corneal thickness in glaucoma: A Mendelian randomization approach. C. Y. Cheng et al.

394 Increased risk of rheu-matoid arthritis among shared epitope-negative mothers with shared epitope-positive children: Results from the moth-er-child immunogenetic study in autoimmunity. G. I. Cruz et al.

402 Real-time pharmacog-enomics: Genetic factors im-pacting phenylephrine response during surgery. J. M. Jeff et al.

371 Medical exome: Towards achieving complete coverage of disease related genes. A. Santani et al.

379 Aberrant DNA hypermeth-ylation of SDHC: A novel mech-anism of tumor development in Carney Triad. F. Faucz et al.

387 The role of rare TIMP3 mu-tations in age-related macular degeneration. L. G. Fritsche.

395 Steroid-responsive genes play a major role in the genetic basis of sexual dimorphism in complex human disease. L. A. Weiss et al.

403 PGRN Network-wide Project: Transcriptome analysis of pharmacogenes in human tissues. C. E. French et al.

372 Look before you leap, and list before you look: The use of a priori curated gene lists to guide exome analysis. B. C. Powell et al.

380 A screen-informed candi-date gene approach identifies a large human telomere main-tenance network. B. Holohan et al.

388 High-throughput screening of 51 known causative genes in families with congenital cata-ract. S. Javadiyan et al.

396 Functional characterization of a multiple sclerosis asso-ciated variant in IL7Ra. S. G. Gregory et al.

404 Transcriptome prediction in relevant tissues reveals mechanisms of drug-induced peripheral neuropathy. H. E. Wheeler et al.

373 Validation of small-mole-cule metabolomic profiling for the clinical screening of inborn errors of metabolism. M. J. Miller et al.

381 Association between telomere length SNPs and five cancer types: A Mendelian randomization study from the GAME-ON post-GWAS consor-tium. C. Zhang et al.

389 Primary cilia mediate retinal development and photoreceptor homeostasis. C. Carter et al.

397 UBE2L3 polymorphism amplifies NF-kB activation and promotes B cell development linking linear ubiquitination to multiple autoimmune diseases. M. J. Lewis et al.

405 Evidence for extensive plei-otropy among pharmacogenes. M. T. Oetjens et al.

374 Free the data: EmBase and EmVClass facilitate stor-age, interpretation, curation, and sharing of over 11,000 sequence variants identified through clinical testing. L. J. H. Bean et al.

382 Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPT-M1L region on chromosome 5p15.33. Z. Wang et al.

390 Using zebrafish to assess novel therapeutics and model the eye disease of cblC dis-ease. N. P. Achilly et al.

398 A recombination allele of the lipase gene CEL and its pseudogene CELP encodes a hybrid protein and is a genetic risk factor for chronic pancreati-tis. K. Fjeld et al.

406 Identifying risk variants for dihydropyrimidine dehydro-genase deficiency using an isogenic system of expression. S. M. Offer et al.

Wednesday, October 22: Concurrent Invited Session II TIME Room 6AB, Upper Level Room 20D, Upper Level Room 20A, Upper Level Room 30, Upper Level

SESSION 69 – Circulating Cell-Free Nucleic Acids as Clinical BiomarkersCo-Moderators: Glenn E. Palo-maki, Women & Infants Hosp/Alpert Med Sch at Brown Univ, Providence; and YMD Lo, Chi-nese Univ Hong Kong

SESSION 70 – Genomic Med-icine Case Conference: Illustra-tive Clinical ExamplesCo-Moderators: Ian Krantz, Chil-dren’s Hosp, Philadelphia; and Gail P. Jarvik, Univ Washington, Seattle

SESSION 71 – Genomic Varia-tion: Interpreting the Uninter-pretedModerator: Douglas M. Fowler, Univ Washington, Seattle

SESSION 72 – Genetics of Sleep and Circadian DisordersCo-Moderators: Juliane Winkel-mann, Stanford Univ, Palo Alto; and Emmanuel Mignot, Stanford Ctr Sleep Sci and Med, Palo Alto

9:00 am Sequencing circulating cell-free DNA in maternal plasma to identify Down syndrome. G. E. Palomaki.

Variant interpretation challenges in WGS cases from the MedSeq Study. H. Rehm.

Population and personal tran-scriptomics to elucidate disease mechanisms. E. Dermitzakis.

Genetic predisposition, molecular mimicry to 2009 H1N1 influenza and resulting CD4+ T-cell autoim-munity towards hypocretin/orexin in narcolepsy. E. Mignot.

9:30 am Circulating cell-free DNA enables the non-invasive diagnosis of rejection and infection in organ transplantation. I. De Vlaminck.

Genomic tests in pediatric pa-tients. C. Eng.

High-throughput screening for causal non-coding variants. T. Mikkelsen.

Genetics of restless legs syn-drome. J. Winkelmann.

10:00 am Circulating microRNAs as bio-markers for cardiovascular risk. A. Zampetaki.

Return of “actionable”, uncertain, and incidental findings in cancer. L. A. Garraway.

Calibration of multiple in silico tools for predicting pathogenicity of unclassified variants in DNA repair pathway genes. S. V. Tavtigian.

Genetics of circadian disorders. L. J. Ptacek.

10:30 am Genome-wide plasma DNA se-quencing as a universal approach for cancer detection. Y.M.D. Lo.

Cases demonstrating counseling issues in genomic medicine. L. Amendola.

Sequence-function mapping to determine the impact of coding variation. D. M. Fowler.

Transcriptional architecture and chromatin landscape of the circadian clock in mammals. J. S. Takahashi.

Wednesday, October 22 11:15 AM–12:30 PM 77. ASHG Membership/Business Meeting and Announcement of the C.W. Cotterman Award Winners and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research Winners Room 20BC, Upper Level, Convention Center Reports highlighting current Society business will be presented. This is an opportunity for members to learn about recent ASHG activities and to provide suggestions to leaders. There will be a moment of silence for those members and colleagues we have lost in 2014. Discussion from the floor is encouraged. Announcement of the winners of the C.W. Cotterman Awards and the Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research will be made at the start of the Business Meeting.

Remember to check the addendum for author changes

9:00 AM–11:00 AMRoom 20BC, Upper Level Room 29, Upper Level Room 6CF, Upper Level Room 6DE, Upper Level

SESSION 73 – Heritability and Risk Prediction for Complex Traits: Regulatory Variants and Polygenic ModelsCo-Moderators: Manolis Kellis, MIT / Broad Inst, Cambridge; and Joel Hirschhorn, Harvard Med Sch, Boston

SESSION 74 – Stakeholder Engage-ment in Genomics Policy Develop-ment: What Is It? Why Do It? How?Co-Moderators: Julie N. Harris, Kaiser Permanente, Oakland; and Amy A. Lemke, Univ Washington, Seattle

SESSION 75 – Variation, Mutation, and Selection through the Lens of Regulatory GenomicsCo-Moderators: Lucas D. Ward, and Alexis Battle, Stanford Univ, Palo Alto

SESSION 76 – Viruses, Genomic Instability, and the Pathogenesis of Human CancersModerator: David E. Symer, The Ohio State Univ, Columbus

Insights on complex disease architec-ture from epigenomics and regulatory genomics studies. M. Kellis.

Setting priorities for stakeholder en-gagement in genomics. W. Burke.

The impact of chromatin on mutation rate. P. Polak.

Human papillomavirus induces genomic instability and disrupts cancer-causing genes in human cancers. D. E. Symer.

Heritability of functional variant classes in schizophrenia and other traits: Regulatory elements explain more heritability than coding variants. A. Price.

Harnessing social networking to em-power engagement. S. Terry.

Recent purifying selection on en-hancer-associated motifs. L. D. Ward.

New methods for haplotype reso-lution and the reconstruction of complex virus-associated cancer genomes. J. A. Shendure.

Studies of Low Frequency Variation in Polygenic Disease adn Traits. E. Zeggini.

Participatory governance and public deliberative engagement for health and science policy. M. Burgess.

Genetic control of chromatin state. G. McVicker.

High resolution analysis of hepa-titis B virus integration in the liver cancer genome. Z. Zhang.

Explaining heritability and predicting risk with polygenic scores. F. Dud-bridge.

Challenges and opportunities for stakeholder engagement: Strategies for incorporating public feedback into biobank policy-making. B. A. Koenig.

Mechanism and impact of regulatory genetic variation from chromatin state to protein expression. A. Battle.

Virus-mediated gene therapy and the definition of cancer-free safe harbors in the human ge-nome. F. D. Bushman.

Invited Proposal DeadlineDecember 5, 2014

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