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Homozygous loss-of-function variants in European cosmopolitan and isolate populations.

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第一作者： Vera B,Kaiser

第一单位： MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine and vera.kaiser@igmm.ed.ac.uk.

作者： Vera B,Kaiser ^[1] ; Victoria,Svinti ^[2] ; James G,Prendergast ^[3] ; You-Ying,Chau ^[2] ; Archie,Campbell ^[4] ; Inga,Patarcic ^[5] ; Inês,Barroso ^[6] ; Peter K,Joshi ^[7] ; Nicholas D,Hastie ^[2] ; Ana,Miljkovic ^[5] ; Martin S,Taylor ^[2] ; Generation Scotland ^[8] ; UK10K ^[6] ; Stefan,Enroth ^[6] ; Yasin,Memari ^[2] ; Anja,Kolb-Kokocinski ^[8] ; Alan F,Wright ^[6] ; Ulf,Gyllensten ^[7] ; Richard,Durbin ^[7] ; Igor,Rudan ^[9] ; Harry,Campbell ^[8] ; Ozren,Polašek ^[10] ; Åsa,Johansson ^[4] ; Sascha,Sauer ^[7] ; David J,Porteous ^[2] ; Ross M,Fraser ^[2] ; Camilla,Drake ^[2] ; Veronique,Vitart ^[2] ; Caroline,Hayward ^[11] ; Colin A,Semple ; James F,Wilson

作者单位： MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine and vera.kaiser@igmm.ed.ac.uk. ^[1] MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine and. ^[2] The Roslin Institute, The University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK. ^[3] Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. ^[4] Medical School, University of Split, Soltanska 2, Split 21000, Croatia. ^[5] Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. ^[6] Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK. ^[7] Department of Immunology, Genetics, and Pathology, Biomedical Center, SciLifeLab Uppsala, Uppsala University, Uppsala SE-75108, Sweden and. ^[8] Medical School, University of Split, Soltanska 2, Split 21000, Croatia, Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK. ^[9] Max-Planck-Institute for Molecular Genetics, Otto-Warburg-Laboratory, Berlin, Germany. ^[10] MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine and Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK. ^[11]

医学主题词基因频率(Gene Frequency);纯合子(Homozygote);人类(Humans);突变(Mutation);表型(Phenotype);遗传选择(Selection, Genetic)

DOI 10.1093/hmg/ddv272

PMID 26173456

发布时间 2025-05-29

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