Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
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
Topics & Concepts
Loss functionComputational biologyBiologyGeneticsFunction (biology)AnnotationGenomeWhole genome sequencingPopulationPathogenicityGenePhenotypeMedicineEnvironmental healthMicrobiologyGenomics and Rare DiseasesGenomics and Phylogenetic StudiesCancer Genomics and Diagnostics