It's not clear how the tool behaves on gVCF data. The notation is probably simply ignored and harmless but there may be implications for the interpretation strategy. For example, if a second hit is potentially obscured by a non-sequenced region, we may still prioritize the heterozygous variant in a recessive gene.
dennishendriksen
commented
6 years ago
It's not clear how the tool behaves on gVCF data. The notation is probably simply ignored and harmless but there may be implications for the interpretation strategy. For example, if a second hit is potentially obscured by a non-sequenced region, we may still prioritize the heterozygous variant in a recessive gene.