Entering edit mode
12.4 years ago
win
▴
990
hi all hope someone can help. The .vcf file generated after SNP calling contains variants with genotypes of 0/1 or 1/0 or 1/1.
does this mean that variants not detected in the vcf are homozygous wildtype.
is there a way to extract all such variants from the bam file an generate a file that has the QC score?
thanks in advance. ashwin
Ashwin -- what method are you using to call variants? Most callers have an option to enable reporting of confident reference calls as well. For instance, in GATK UnifiedGenotyper use
EMIT_ALL_CONFIDENT_SITES
http://www.broadinstitute.org/gatk/gatkdocs/org_broadinstitute_sting_gatk_walkers_genotyper_UnifiedGenotyper.html#--output_mode