Article

A scalable approach to resolving variants of uncertain significance

2026-02-15

Abstract excerpt

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 pathogenicity and inform disease biology, but most variants lack data and clinical translation has been limited. The Impact of Genomic Variation on Function Consortium generated experimental data for 62,215 variants across ten ge...

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Literature Corpus work: 1054cb7a-4d76-5b46-87fe-c84ae1793315
DOI: 10.64898/2026.02.14.705848

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