Integrative exome sequencing and multi-omics analysis elucidates the regulatory role of rare variants in metabolic syndrome.

Abstract excerpt

Metabolic syndrome (MetS) is a cluster of interconnected cardiometabolic risk factors with a substantial but incompletely characterized genetic basis. To identify novel genetic determinants, particularly rare variants, we here conducted a large-scale exome-wide association study in 367,188 individuals from the UK Biobank (78,300 cases and 288,888 controls). Single-variant analysis identified 74 independent loci,...

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