Genotype inference from aggregated chromatin accessibility data reveals genetic regulatory mechanisms
Our work provides a proof of principle for caQTL calling from previously ungenotyped samples and represents one of the largest, most diverse caQTL resources currently available, informing mechanisms of genetic regulation of gene expression and contribution to disease.
Authors
- Jeremiah H. Li (ORCID: https://orcid.org/0000-0002-9344-0237)
- Benjamin Franklin Voight (ORCID: https://orcid.org/0000-0002-6205-9994)
- Max F. Dudek (ORCID: https://orcid.org/0000-0001-8521-9543)
- Rebecca Keener (ORCID: https://orcid.org/0000-0001-9031-6866)
- Taibo Li (ORCID: https://orcid.org/0000-0002-6624-9293)
- Nae-Chyun Chen (ORCID: https://orcid.org/0000-0002-4140-4568)
- Brandon M. Wenz
- Yuan He (ORCID: https://orcid.org/0000-0002-1455-3963)
- Christopher D. Brown (ORCID: https://orcid.org/0000-0002-3785-5008)
- Alexis Battle
- Joseph K. Pickrell
Institutions
- GenVec (US)
- Johns Hopkins University (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Genome biology
- Published
- 2025-03-30
- DOI
- https://doi.org/10.1186/s13059-025-03538-1
- Citations
- 5
- Primary Topic
- Genomics and Chromatin Dynamics
- Type
- article
- Field-Weighted Citation Impact
- 4.03
Funders
- National Institute of General Medical Sciences
- National Institute of Diabetes and Digestive and Kidney Diseases