Litcius/Paper detail

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

2023The American Journal of Human Genetics29 citationsDOIOpen Access PDF

Topics & Concepts

Loss functionComputational biologyBiologyGeneticsFunction (biology)AnnotationGenomeWhole genome sequencingPopulationPathogenicityGenePhenotypeMedicineEnvironmental healthMicrobiologyGenomics and Rare DiseasesGenomics and Phylogenetic StudiesCancer Genomics and Diagnostics