Article
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
Nature genetics - 1 Apr 2026
Kim Hye In, DeBoever Christopher, Walter Klaudia, Kalantzis Georgios, Li Chen, Mozaffari Sahar V, Kundu Kousik, Jacobs Benjamin M, Mohammadi-Shemirani Pedrum, Musolf Anthony M, Davitte Jonathan M, Aksit Melis A, Gafton Joseph, Catalano Katrina A, Dawed Adem Y, Graham Robert R, Guo Bin, Gupta Namrata, Heng Teng Hiang, Hunt Karen A, Iyer Vivek, Langenberg Claudia, Lassen Frederik H, MacArthur Daniel G, Maher Eamonn R, Maroteau Cyrielle, Newman William G, O'Rahilly Stephen, Palmer Duncan S, Popov Iaroslav, Siddiqui Moneeza K, Simpson Michael A, Spreckley Marie, Wright John, Del Angel Guillermo, Petrovski Slavé, Holzinger Emily R, Maranville Joseph C, Addis Laura, Turner Richard M, Estrada Karol, Longerich Simone, Howson Joanna M M, Jamshidi Yalda, Fauman Eric B, Miller Melissa R, Diogo Dorothée, Trembath Richard C, Finer Sarah, Martin Hilary C, van Heel David A
Abstract excerpt
Genes & Health (G&H) is a biomedical study of adult British Pakistani and Bangladeshi research volunteers enriched for autozygosity. Here we performed whole-exome sequencing in 44,028 G&H participants, establishing a large publicly available South Asian exome resource linked to longitudinal electronic health records. We performed exome-wide association analyses for 645 electronic health record-derived traits...
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