Genetic variation across the population occurs with different frequency

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

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

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

Gene Substitution Polyphen-2 Prediction

1000 Genomes EUR Frequency

NHLBI ESP Frequency

TTN E3707X Absent Absent

• • • • •