Article
Rare variant associations with plasma protein levels in the UK Biobank.
Nature - 1 Oct 2023
Dhindsa Ryan S, Burren Oliver S, Sun Benjamin B, Prins Bram P, Matelska Dorota, Wheeler Eleanor, Mitchell Jonathan, Oerton Erin, Hristova Ventzislava A, Smith Katherine R, Carss Keren, Wasilewski Sebastian, Harper Andrew R, Paul Dirk S, Fabre Margarete A, Runz Heiko, Viollet Coralie, Challis Benjamin, Platt Adam, Vitsios Dimitrios, Ashley Euan A, Whelan Christopher D, Pangalos Menelas N, Wang Quanli, Petrovski Slavé
Abstract excerpt
Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets1-4. Because previous proteogenomic studies have focused on common variation via genome-wide association studies, the contribution of rare variants to the plasma proteome remains largely unknown. Here we identify associations between rare protein-coding variants and 2,923 plasma...
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