Article
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Nature genetics - 1 Jul 2024
Waters Andrew J, Brendler-Spaeth Timothy, Smith Danielle, Offord Victoria, Tan Hong Kee, Zhao Yajie, Obolenski Sofia, Nielsen Maartje, van Doorn Remco, Murphy Jo-Ellen, Gupta Prashant, Rowlands Charlie F, Hanson Helen, Delage Erwan, Thomas Mark, Radford Elizabeth J, Gerety Sebastian S, Turnbull Clare, Perry John R B, Hurles Matthew E, Adams David J
Abstract excerpt
Many variants that we inherit from our parents or acquire de novo or somatically are rare, limiting the precision with which we can associate them with disease. We performed exhaustive saturation genome editing (SGE) of BAP1, the disruption of which is linked to tumorigenesis and altered neurodevelopment. We experimentally characterized 18,108 unique variants, of which 6,196 were found to have abnormal functions,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.