Epigenomic variation atlas across human tissues and individuals in GTEx
Description: PUBLIC HEALTH RELEVANCE: Most human variants associated with disease are non-coding and largely uncharacterized, making it a great priority to understand the cell types in which they act and their mechanism of action. To address this challenge, we propose to characterize the regulatory impact of genetic variation in eight human tissues and six brain regions with important roles in diabetes, heart disease, cancer, and neuropsychiatric disease. We construct epigenomic maps of active and repressed regulatory elements across 250 individuals in each tissue and 100 individuals in brain regions, and integrate these with genetic variation and gene expression variation as part of the Genotype-Tissue Expression (GTEx) project, providing a powerful resource for deciphering the basic biology of gene regulation in diverse tissues and the mechanistic molecular basis of human disease.
Funding type: cooperative_agreement
Funder scheme: U01
Start date: 2014-06-02
End date: 2018-03-31
Investigator: MANOLIS KELLIS
Institution: MASSACHUSETTS INSTITUTE OF TECHNOLOGY
Subfield: Genetics
Domain: Life Sciences
Funded outputs count: 32
Funder award ID: U01HG007610
OpenAlex ID: G1479562667