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

Blood metabolite measurements can help diagnose and monitor human disease. We analyzed 412,393  UK Biobank exomes to assess rare variant contribution to 355 metabolic blood measurements, revealing significant associations for 205 genes. We provide several examples of how this resource can help elucidate disease mechanisms.

Source: The American Journal of Human Genetics - February 20, 2023 Category: Genetics & Stem Cells Authors: Abhishek Nag, Ryan S. Dhindsa, Lawrence Middleton, Xiao Jiang, Dimitrios Vitsios, Eleanor Wigmore, Erik L. Allman, Anna Reznichenko, Keren Carss, Katherine R. Smith, Quanli Wang, Benjamin Challis, Dirk S. Paul, Andrew R. Harper, Slav é Petrovski Tags: Article Source Type: research