Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

Specialty Areas:
Date: February 19, 2025
Authors:
Anne O’Donnell-Luria, Daniel G MacArthur, Eleanor G Seaby, Eleina England, Heidi L. Rehm, Jordan C Wood, Konrad J Karczewski, Moriel Singer-Berk, Nicholas A Watts, Rachel G Son, Samantha Baxter, Sanna Gudmundsson, Steven M. Harrison
Journal: American Journal of Human Genetics
Journal Volume: 110