Proteomic and clinical impact of human knockouts in British South Asians

Abstract excerpt

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)...

Topics

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• Exome
• Exome Sequencing
• Genes, Recessive
• Genetic Association Studies
• Genome-Wide Association Study
• South Asian People
• UK Biobank
• United Kingdom

Identifiers and source

Literature Corpus work

92bf46e8-a5c1-5175-8906-6c1264a49caa

DOI

10.1101/2025.10.15.25337977