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Article

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.

American journal of human genetics - 2 Mar 2023

Nag Abhishek, Dhindsa Ryan S, Middleton Lawrence, Jiang Xiao, Vitsios Dimitrios, Wigmore Eleanor, Allman Erik L, Reznichenko Anna, Carss Keren, Smith Katherine R, Wang Quanli, Challis Benjamin, Paul Dirk S, Harper Andrew R, Petrovski Slavé

Abstract excerpt

Genome-wide association studies (GWASs) have established the contribution of common and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To complement existing GWAS findings, we assessed the contribution of rare protein-coding variants in relation to 355 metabolic blood measurements-including 325 predominantly lipid-related nuclear magnetic resonance (NMR)-derived blood metabolite...

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Identifiers

PMID: 36809768
DOI: 10.1016/j.ajhg.2023.02.002
PMCID: PMC10027475

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