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SAIGE-GENE plus improves the efficiency and accuracy of set-based rare variant association tests

Zhou, W; Bi, WJ; Zhao, ZC; Dey, KK; Jagadeesh, KA; Karczewski, KJ; Daly, MJ; Neale, BM; Lee, S

Zhou, W (通讯作者)，Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA.;Zhou, W (通讯作者)，Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Zhou, W (通讯作者)，Broad Inst Harvard & MIT, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.;Bi, WJ (通讯作者)，Peking Univ, Sch Basic Med Sci, Dept Med Genet, Beijing, Peoples R China.;Bi, WJ (通讯作者)，Univ Michigan, Sch Publ Hlth, Ctr Stat Genet, Ann Arbor, MI 48109 USA.;Bi, WJ (通讯作者)，Univ Michigan, Sch Publ Hlth, Dept

NATURE GENETICS, 2022; 54 (10): 1466

Abstract

Several biobanks, including UK Biobank (UKBB), are generating large-scale sequencing data. An existing method, SAIGE-GENE, performs well when testing ......

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