Inferring Compound Heterozygosity from Large-Scale Exome Sequencing Data
Michael H. Guo,Laurent C. Francioli,Sarah L. Stenton,Julia K. Goodrich,Nicholas A. Watts,Moriel Singer-Berk,Emily Groopman, Philip W. Darnowsky,Matthew Solomonson,Samantha Baxter,Maria Abreu,Grace Tiao,Benjamin M. Neale,Joel N. Hirschhorn,Heidi L. Rehm,Mark J. Daly,Anne O’Donnell-Luria,Konrad J. Karczewski,Daniel G. MacArthur,Kaitlin E. Samocha Nature Genetics（2024）
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Exome Sequencing,Pathogenicity Prediction
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