General

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

  • 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
  • Collaborators: Boston Children's Hospital; Broad Institute of MIT and Harvard; Garvan Institute of Medical Research; Harvard Medical School; Massachusetts General Hospital; Murdoch Childrens Research Institute; University of Southampton
  • Journal: American Journal of Human Genetics
  • Date: 2023 - Sep
  • Topics: Variant Assess. & Interpretation

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