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