Erin Oerton

Oct 4, 2023 | nature.com | Ryan S. Dhindsa |Benjamin B. Sun |Eleanor Wheeler |Erin Oerton |Andrew Harper |Dirk S. Paul | +4 more

AbstractIntegrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets1,2,3,4. 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 protein abundances measured in 49,736 UK Biobank individuals.