Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum

2025/04/01 by David S. M. Lee, David S.M. Lee, Kathleen M. Cardone +47 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Cardiac electrophysiology and arrhythmias #Cardiomyopathy and Myosin Studies #RNA and protein synthesis mechanisms

paper · doi:10.1038/s41588-025-02140-2

crossref issued 2025/04/01 · crossref published 2025/04/01 · crossref published-print 2025/04/01 · openalex publication_date 2025/04/01 · crossref published-online 2025/04/07 · crossref created 2025/04/07 · openalex created_date 2025/10/10 · crossref deposited 2025/11/29 · crossref indexed 2026/07/17 · openalex updated_date 2026/07/28

Citations

• REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
• Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution
• The mutational constraint spectrum quantified from variation in 141,456 humans

Discussions

• 105 new loci at #genome-wide significance linked to 5 distinct traits/diseases with shared #GeneticSusceptibility to #HeartFailure doi.org/10.1038/s415... @DavidSMLee @bvoight28.bsky.social @MarylynRi [bsky, 2 points, 0 comments]