varfish-org / mehari

VEP-like tool for sequence ontology and HGVS annotation of VCF files
MIT License
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Adjust threshold for splice variants. #321

Open holtgrewe opened 2 years ago

holtgrewe commented 2 years ago

Is your feature request related to a problem? Please describe. The splice region is based on the sequence ontology setting. However, ACMG 2021 recommends different settings.

Describe the solution you'd like

Targeted regions should minimally include coding exons with sufficient intronic coverage to allow analysis of positions −1−16 and +1+5 as well as other regions with reported pathogenic variants (e.g., splice sites of noncoding exons, deep intronic variants). -- ACMG 2021

Describe alternatives you've considered N/A

Additional context

holtgrewe commented 7 months ago

We now have "distance to exons". However, should be changed in bihealth/mehari.