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varfish-org / varfish-server

VarFish: comprehensive DNA variant analysis for diagnostics and research
MIT License
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Carrier screening filter mode #1408

Open einicke opened 7 months ago

einicke commented 7 months ago

Is your feature request related to a problem? Please describe. Carrier screening of both parents for compound heterozygous variants is currently not possible (if the index does not carry both of them). Current guidelines recommend reporting carrier status as an incidental finding.

Describe the solution you'd like Create a carrier screening filter preset. Presets like existing compond heterozygous preset but with inheritance: Index Any, Father 0/1, Mother 0/1 in same gene.

Describe alternatives you've considered It takes too long to search a panel for father and mother separately and then combine them manually.

Additional context https://gfhev.de/de/veroeffentlichungen/2023_Zusatz-und_Zufallsbefunde.pdf

holtgrewe commented 6 months ago

Not so easy. Needs adjustment of query engine. I would suggest doing this after ng data flows