Research Article

A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference

Table 4

Filtered variant statistics for the 30 pipelines, including SNVs and indels.

AlignerGenotyperFiltered TP SNVsFiltered FP SNVsFiltered TP indelsFiltered FP indels

Bowtie2FreeBayes17,504903481746
Bowtie2GATK HC17,33029648687
Bowtie2GATK UG19,93749395338
Bowtie2mpileup17,049153402541
Bowtie2SNPSVM13,9838
BWA memFreeBayes17,376347461739
BWA memGATK HC19,388302689860
BWA memGATK UG20,00048397355
BWA memmpileup17,07057403606
BWA memSNPSVM15,06010
BWA sampeFreeBayes17,435450443647
BWA sampeGATK HC19,438214630725
BWA sampeGATK UG19,55727384336
BWA sampempileup17,049111387518
BWA sampeSNPSVM15,21810
CUSHAW3FreeBayes16,6207,6273621,294
CUSHAW3GATK HC16,5902,1956651,551
CUSHAW3GATK UG17,9392,202357545
CUSHAW3mpileup15,9424,029368796
CUSHAW3SNPSVM
MOSAIKFreeBayes17,177679458645
MOSAIKGATK HC11,61633426255
MOSAIKGATK UG16,42342381224
MOSAIKmpileup
MOSAIKSNPSVM4,7273
NovoalignFreeBayes16,658219384559
NovoalignGATK HC19,406385702872
NovoalignGATK UG20,52146386315
Novoalignmpileup16,49362396579
NovoalignSNPSVM14,45118