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

Moriel Singer‐Berk(Broad Institute), Sanna Gudmundsson(Broad Institute), Samantha Baxter(Broad Institute), Eleanor G. Seaby(Broad Institute), Eleina England(Broad Institute), Jordan C. Wood(Broad Institute), Rachel G. Son(Broad Institute), Nicholas A. Watts(Broad Institute), Konrad J. Karczewski(Broad Institute), Steven M. Harrison(Broad Institute), Daniel G. MacArthur(Broad Institute), Heidi L. Rehm(Broad Institute), Anne O’Donnell‐Luria(Broad Institute)
The American Journal of Human Genetics
August 25, 2023
Cited by 29Open Access
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