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Proteomic and clinical impact of human knockouts in British South Asians

2025-10-15 genetic and genomic medicine Title + abstract only
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Human loss-of-function (LoF) variants affecting both copies of a gene ("human knockouts") provide a unique opportunity to directly study function and clinical impact of genes but are very rare in most populations sequenced to date. Here we study 1,569 British Bangladeshi and -Pakistani adults who were recalled for plasma sampling for proteomic profiling using three distinct technologies (covering >12,000 proteins) from 55k whole exome sequenced Genes & Health adults - a cohort enriched for rare,...

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