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

Document Type

Article

Author

Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G.; England, Eleina; Wood, Jordan C.; Son, Rachel G.; Watts, Nicholas A.; Karczewski, Konrad J.; Harrison, Steven M.; MacArthur, Daniel G.; Rehm, Heidi L.; O’Donnell-Luria, Anne

Source

In The American Journal of Human Genetics 7 September 2023 110(9):1496-1508

Subject

Language

ISSN

0002-9297

Online Access

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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