An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.

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第一作者： Yingleong,Chan

第一单位： Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA.

作者： Yingleong,Chan ^[1] ; Elaine T,Lim ^[2] ; Niina,Sandholm ^[3] ; Sophie R,Wang ^[1] ; Amy Jayne,McKnight ^[4] ; Stephan,Ripke ^[5] ; DIAGRAM Consortium ^[2] ; GENIE Consortium ^[5] ; GIANT Consortium ^[1] ; IIBDGC Consortium ^[6] ; PGC Consortium ; Mark J,Daly ; Benjamin M,Neale ; Rany M,Salem ; Joel N,Hirschhorn

作者单位： Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA. ^[1] Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, MA 02114, USA. ^[2] Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum Helsinki, Helsinki 00290, Finland; Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki 00290, Finland; Department of Biomedical Engineering and Computational Science, Aalto University School of Science, Helsinki 00076, Finland. ^[3] Nephrology Research, Centre for Public Health, Queen's University of Belfast, Belfast, Northern Ireland BT7 1NN, UK. ^[4] Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, MA 02114, USA. ^[5] Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142, USA; Department of Endocrinology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: joelh@broadinstitute.org. ^[6]