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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, M.; Gudmundsson, S.; Baxter, S.; Seaby, E.G.; England, E.; Wood, J.C.; Son, R.G.; Watts, N.A.; Karczewski, K.J.; Harrison, S.M.; MacArthur, D.G.; Rehm, H.L.; O'Donnell-Luria, A.

Source

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

Subject

Language

English

ISSN

15376605
00029297

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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