aug2015 analysis team 08 genome in a bottle alex hastie 2015_final
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GIAB August 2015
Irys: Genome Maps for Sequence Assembly and
Structural Variation
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Genome Mapping in Platinum Genome Assembly
De novo assembly
Scaffolding
SV calling and validation
Orthogonal validation and Chimera detection
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Sample molecule, assembly, and variation summary
Molecule GM24143 Mother
GM24149 Father
GM24385 Son
Molecules >150 kb # 1106746 933742 1320289
Molecule N50 (kb) 257.4 306.2 264.6
Molecule coverage (x) 91.8 87.3 111.6
Assembly GM24143 Mother
GM24149 Father
GM24385 Son
Assembly map (#) 1092 1094 1098
Total map len (Mb) 2855.1 2884.9 2876.8
Map N50 (Mb) 4.44 4.48 4.59
Total map len / Ref len 0.91 0.92 0.91
Total NR map len / Ref len 0.90 0.91 0.90
Variation* GM24143 Mother
GM24149 Father
GM24385 Son
Insertion 570 669 626
Deletion 320 284 333
Inversion breakpoint 20 26 29
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De Novo Assembly of Chr1 q-arm Pericentromeric Region
PacBio
Hg19 Chr1 144M-154M
BNG
Hg19 Chr1 144M-154M
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Genome Map Provides Orthogonal Cross Validation of Sequence Assemblies and Conflict Flagging
No Discrepancies
PacBio
BNG
PacBio
BNG
BNG
No Discrepancies
6
Conflict Resolution Example
Ben Rosen, Derek Bickhart et al., USDA
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Orthogonal Validation of Structural Variation Calls
PacBio
Hg19-Chr1
7 kb Insertion at9.675 Mb – 9.688 Mb
BNG
Hg19-Chr1
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Summary
• Fully de novo genome map assembly for genome structure
• Validation of sequence assembly by orthogonal verification
• Hybrid scaffolding of sequence assemblies• Structural variation detection• Structural variation validation by genome map and
single molecule alignment
9
Acknowledgments
• GIAB• BioNano Genomics−Han Cao−Zeljko Dzakula−Ernest Lam−Andy Pang−Thomas Anantharaman−Khoa Pham−Will Stedman
• Mt. Sinai−Ali Bashir
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