Author
Regeneron (United States)ORCID 0000-0001-5452-377XUnclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Colm T. O’Dushlaine, Mary Germino, Niek Verweij…·Jonathan Marchini
The paper conducts a genome-wide association study of liver fat, iron, and extracellular fluid fraction using UK Biobank MRI data, identifying novel genetic loci for these traits.
Andrew L. Blumenfeld, Claudia G. Gonzaga-Jauregui, Deepika Sharma…·Jeffrey C. Staples
The paper validates gene-phenotype associations by mapping genes to ICD codes using UMLS relationships, finding 249,764 gene-ICD mappings in a cohort of 92,455 samples.
Marijana Vujković, Jacob M. Keaton, Julie Ann Lynch…·Saib S. Gappy
Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.
Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua Backman…·Aris Baras
Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.