Comprehensive functional genomic resource and integrative model for the human brain
- Authors
- 안준용
- Issue Date
- Dec-2018
- Publisher
- AMER ASSOC ADVANCEMENT SCIENCE
- Citation
- SCIENCE, v.362, no.6420, pp.1266 - 1266
- Indexed
- SCIE
SCOPUS
- Journal Title
- SCIENCE
- Volume
- 362
- Number
- 6420
- Start Page
- 1266
- End Page
- 1266
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/139714
- ISSN
- 0036-8075
- Abstract
- Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains similar to 79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Integration shows that varying cell-type proportions largely account for the cross-population variation in expression (with >88% reconstruction accuracy). It also allows building of a gene regulatory network, linking genome-wide association study variants to genes (e.g., 321 for schizophrenia). We embed this network into an interpretable deep-learning model, which improves disease prediction by similar to 6-fold versus polygenic risk scores and identifies key genes and pathways in psychiatric disorders.
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Collections - College of Health Sciences > School of Biosystems and Biomedical Sciences > 1. Journal Articles
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