The Polygenic and Monogenic Basis of Blood Traits and Diseases
University of Cambridge · Wellcome Sanger Institute · +84 more institutions
Abstract
Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory…
Citation impact
- FWCI
- 75.06
- Percentile
- 100%
- References
- 83
Authors
112- DVDragana Vuckovic
University of Cambridge, Wellcome Sanger Institute, National Institute for Health and Care Research, Genomics (United Kingdom)
- ELErik L. Bao
Broad Institute, Boston Children's Hospital, Harvard University, Harvard–MIT Division of Health Sciences and Technology, Dana-Farber Cancer Institute
- PAParsa Akbari
University of Cambridge, Wellcome Sanger Institute, British Heart Foundation, National Institute for Health and Care Research, MRC Biostatistics Unit, Genomics (United Kingdom)
- CACaleb A. Lareau
Broad Institute, Boston Children's Hospital, Harvard University, Dana-Farber Cancer Institute
- AMAbdou Mousas
Montreal Heart Institute
Topics & keywords
- Biology
- Biobank
- Genome-wide association study
- Genetic architecture
- Quantitative trait locus
- Mendelian inheritance
- Human genetic variation
- Genetic association