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Published 20 hours ago • verified publisher icon Maggi-Chen

Reading Genotype information

Open YomnaGohar opened this issue 2 years ago • 0 comments

Hi! I used Debreak to compare my assembly to a reference genome which is haploid. And I am confused by the genotype information in the Vcf file. For example, This duplication is detected as multi-allelic yet the genotype is 1/1. Why wasn't it reported as 1/2?

NC_031467.1 1047294 DB2 N <DUP> . PASS END=1047439;CHR2=NC_031467.1;SVLEN=146;SUPPREAD=41;MAPQ=60;SVMETHOD=DeBreak;SVTYPE=DUP;MULTI GT 1/1

YomnaGohar avatar Nov 16 '22 13:11 YomnaGohar