The paper identifies plasma proteomic markers linked to polygenic risk of type 2 diabetes and related comorbidities using proteogenomic data from biobanks and clinical trials.

Nature Communications · Mar 3, 2025Peer-reviewedGenetic & Genomic Medicine

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean Joseph Jurgens, Giorgio E. M. Melloni, Nicholas Marston, Lu-Chen C Weng, Victor D. Nauffal, Amelia Weber Hall, Sophia Gunn, Christina Anne Austin-Tse, James P. Pirruccello, Shaan S. Khurshid, Heidi L. Rehm, Emelia J. Benjamin, , Steven A. Lubitz

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

Nature Communications · Aug 30, 2022Peer-reviewedGenetic & Genomic Medicine

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Krishna G. Aragam, Tao Jiang, Anuj Goel, Stavroula Kanoni, Brooke N. Wolford, Elle M. Weeks, Minxian Wang, George Hindy, Wei Zhou, Christopher Grace, Carolina Roselli, Nicholas Marston, Frederick Kamanu, Ida L. Surakka, Loreto Muñoz Venegas, , Adam S. Butterworth

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

medRxiv · May 24, 2021 · PreprintGenetic & Genomic Medicine✦ In-depth digest

Mutations in RPL3L and MYZAP increase risk of atrial fibrillation

Rósa B. Þórólfsdóttir, Garðar Sveinbjörnsson, Patrick Sulem, Stefan Jonsson, Gisli Hreinn Halldorsson, Páll Melsted, Erna V. Ivarsdottir, Olafur B. Davidsson, Ragnar P. Kristjansson, Guðmar Þorleifsson, Anna Helgadóttir, Sólveig Grétarsdóttir, Gudmundur Logi Norddahl, Sridharan Rajamani, Bjarni Torfason, , Kāri Stefánsson

This study identifies mutations in RPL3L and MYZAP as risk factors for atrial fibrillation through genome-wide association analysis and functional validation.

bioRxiv · Nov 21, 2017 · PreprintGenetics