awilfert / PSAP-pipeline

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Handling of ties between variant pathogenicity scores of heterozygotes #8

Open dconrad opened 7 years ago

dconrad commented 7 years ago

We don't consistently handle the situation where 2 or more heterozygotes in the same gene have the same pathogenicity score (e.g. CADD score). Typically we should have at most 2 heterozygous genotypes reported per gene. (A) The worst one, which will show up as the DOM-het test and one of the REC-chet, and (B) the second worst, which will only show up as one of the REC-chets. Due to ties, we sometimes report two totally different variants for the REC-chet test, not overlapping with the DOM-het variant.