P155: 260,000 variant effect measurements and novel calibration methods drive resolution of variants of uncertain significance
Abstract
Understanding the functional consequences of human genetic variation is essential for realizing the promise of genomics. Functional assays provide fundamental insights into gene and protein biology, reveal the molecular mechanisms by which variants perturb cellular systems, and supply critical evidence for clinical variant classification. However, most variants remain uncharacterized, existing data are fragmented across disparate formats, and translation into clinically actionable evidence has been limited.
Fields of Study & Subjects
Genomics and Rare Diseases
Genetic Associations and Epidemiology
BRCA gene mutations in cancer
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103649–103649
- Publication date
- 1 January 2026
- Language
- EN