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Adjust threshold for splice variants.

Open holtgrewe opened this issue 3 years ago • 1 comments

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 avatar Jan 29 '22 09:01 holtgrewe

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

holtgrewe avatar Jan 24 '24 16:01 holtgrewe