Closed anneodonnell closed 6 years ago
de novo searching seems to be broken in the CMG_Estonia_WGS project - I think it's an issue with the allele balance filtering.
https://seqr.broadinstitute.org/project/Estonian_WGS/family/HK102/mendelian-variant-search#search/f616783f/results The HIST1H1E de novo variant is the pathogenic variant in this case - good GQ and AB If I search with AB <10% filtered, I get no variants If I set AB to 0, then I get variants but allele balance is 32% for this variant.
Fixed
bw2
commented
6 years ago bw2
commented
6 years ago
de novo searching seems to be broken in the CMG_Estonia_WGS project - I think it's an issue with the allele balance filtering.
https://seqr.broadinstitute.org/project/Estonian_WGS/family/HK102/mendelian-variant-search#search/f616783f/results The HIST1H1E de novo variant is the pathogenic variant in this case - good GQ and AB If I search with AB <10% filtered, I get no variants If I set AB to 0, then I get variants but allele balance is 32% for this variant.