Modeling the impact of data sharing on variant classification.
Many genetic variants are classified, but many more are variants of uncertain significance (VUS). Clinical observations of patients and their families may provide sufficient evidence to classify VUS. Understanding how long it takes to accumulate sufficient patient data to classify VUS can inform decisions in data sharing, disease management, and functional assay development.
Author(s): Casaletto, James, Cline, Melissa, Shirts, Brian
DOI: 10.1093/jamia/ocac232