Population-Based Penetrance of Deleterious Clinical Variants.

ABSTRACT:

Importance

Population-based assessment of disease risk associated with gene variants informs clinical decisions and risk stratification approaches.

Objective

To evaluate the population-based disease risk of clinical variants in known disease predisposition genes.

Design, setting, and participants

This cohort study included 72 434 individuals with 37 780 clinical variants who were enrolled in the BioMe Biobank from 2007 onwards with follow-up until December 2020 and the UK Biobank from 2006 to 2010 with follow-up until June 2020. Participants had linked exome and electronic health record data, were older than 20 years, and were of diverse ancestral backgrounds.

Exposures

Variants previously reported as pathogenic or predicted to cause a loss of protein function

SUBMITTER: Forrest IS 

PROVIDER: S-EPMC8790667 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature