This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

Cell · Sep 1, 2020Peer-reviewedGenetics

The Polygenic and Monogenic Basis of Blood Traits and Diseases

Dragana Vuckovic, Erik L. Bao, Parsa Akbari, Caleb A. Lareau, Abdou Mousas, Tao Jiang, Ming‐Huei Chen, Laura M. Raffield, Manuel Tardáguila, Jennifer E. Huffman, Scott C. Ritchie, Karyn Mégy, Hannes Ponstingl, Christopher J. Penkett, Patrick K. Albers, , Εvangelos Εvangelou

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

Cell · Sep 1, 2020Peer-reviewedGenetic & Genomic Medicine

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

Ιωάννα Ντάλλα, Lu-Chen C Weng, James Cartwright, Amelia Weber Hall, Garðar Sveinbjörnsson, Nathan R. Tucker, Seung Hoan Choi, Mark D. Chaffin, Carolina Roselli, Michael R. Barnes, Borbála Mifsud, Helen R. Warren, Caroline Hayward, Jonathan Marten, James J. Cranley, , Dan M. Roden

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

bioRxiv · Jul 30, 2019 · PreprintGenetics

Genetic and environmental perturbations lead to regulatory decoherence

Amanda J. Lea, Meena Subramaniam, Arthur Ko, Terho J. Lehtimäki, Emma Raitoharju, Mika A. P. Kähönen, Ilkka Seppälä, Nina Mononen, Olli Tuomas Raitakari, Mika Ala‐Korpela, Päivi Pajukanta, Noah Zaitlen, Julien F. Ayroles

This study identifies genetic and environmental factors that disrupt trait correlations, showing environmental perturbations reduce correlations and genetic factors influence correlation patterns.

eLife · Feb 28, 2019Peer-reviewedGenomics