Estimating clinical risk in gene regions from population sequencing cohort data

Methods to identify regions of genes that are most functionally impactful have relied on structural, evolutionary, and population data. We extend these approaches with REGatta, a method to estimate the clinical risk conferred by variants in regions of genes with established disease phenotypes using diagnostic and population cohort data.

Source: The American Journal of Human Genetics - May 25, 2023 Category: Genetics & Stem Cells Authors: James D. Fife, Christopher A. Cassa Tags: Article Source Type: research