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Clinical-Genomics / scout

VCF visualization interface
https://clinical-genomics.github.io/scout
BSD 3-Clause "New" or "Revised" License
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Suggestion: Genespecific criteria for classification of variants with ClinGen guidelines #4048

Open MariaStrandh opened 1 year ago

MariaStrandh commented 1 year ago

When classifying variants in Scout the criteria are the same for all genes (but you can modify the strength of each criteria). ClinGen are publishing more and more gene-specific interpretations of the criteria (Specifications to the ACMG/AMP Variant Interpretation Guidelines), i.e. which criterion may or may not be used and what weight a certain criterion should have for a specific gene: https://cspec.genome.network/cspec/ui/svi/ There are also json files on the website with specifications for the criteria, if they are applicable, etc, here is an example for BRCA1: https://cspec.genome.network/cspec/api/SequenceVariantInterpretation/id/GN092. It would be useful if you only see the criteria that can be used for a certain gene according to ClinGen when you classify in Scout.

dnil commented 1 year ago

Hi Maria! Thank you, that is a great future suggestion, and very cool to see the JSONs - Ive only seen their text descriptions before! Unfortunately there are only a few genes listed as of now, but the number will surely grow.