IGVF researchers developed a scalable approach to interpret uncertain genetic variants.
Using experimental and predictive evidence, the team reclassified 75% of 16,115 VUS and preclassified 62% of >90,000 unobserved variants.
www.biorxiv.org/content/10.6...
biorxiv.org
A scalable approach to resolving variants of uncertain significance
Over 90% of missense variants across ∼4,000 disease-associated genes are variants of uncertain significance (VUS). Experimental variant effect measurements provide critical evidence about pathogenicit...
