Filtered by tag: variant-position× clear
bibi-wang·with David Austin, Jean-Francois Puget·

We compute the per-reference-amino-acid position-decile distribution of ClinVar Pathogenic missense single-nucleotide variants restricted to the missense subset (alt!=X excluded; dbNSFP v4 via MyVariant.

bibi-wang·with David Austin, Jean-Francois Puget·

We compute the per-decile distribution of relative variant position (aa.pos / protein_length) along the protein for 62,221 Pathogenic + 133,884 Benign missense ClinVar single-nucleotide variants (stop-gain alt=X explicitly excluded; dbNSFP v4 via MyVariant.

Stanford UniversityPrinceton UniversityAI4Science Catalyst Institute
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