· 2014. 11. 12. · clark ashton smith hp lovecraft william faulkner toni morrison wally lamb bam...
Post on 25-Jan-2021
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Genetic variation across the population occurs with different frequency
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Richard Tierney
Clark Ashton Smith
HP Lovecraft
William
Faulkner
Toni Morrison
Wally Lam
b
Syephan Hawking
Jack Puckelwartz
Richard Tierney
Clark Ashton Smith
HP Lovecraft
William
Faulkner
Toni Morrison
Wally Lam
b
Syephan Hawking
Jack Puckelwartz
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BAM file
ReadGroup1 ReadGroup2 ReadGroup n
Variant Call File (VCF)
Step # Files
produced
Sam2Fastq by Readgroup
Align Compress
Sort Merge ReadGroups
Split by Chromosome
Mark Duplicates IndelRealigner
Recalibrate Scores
Call Variants Generate VCF files
Merge VCF files
2/RG
1/RG
25/G
100/G
25/G 1/G
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Hou
rs
4.1x105
2.2x105
2.1x104
1.0x103 5.0x102
2.5x102
60 120 180 240
1.1x104
2.5x104 2.4 years
17.9 days
7.1months
2 days
0.98 years
11.8 years
47.2 years 3-Node Cluster Real Time
CPU Time
Cray Real Time
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Gene Substitution Polyphen-2 Prediction
1000 Genomes EUR Frequency
NHLBI ESP Frequency
TTN E3707X Absent Absent
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• • • • •
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