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Article

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.

Proceedings of the National Academy of Sciences of the United States of America - 21 Apr 2020

Cherry Timothy J, Yang Marty G, Harmin David A, Tao Peter, Timms Andrew E, Bauwens Miriam, Allikmets Rando, Jones Evan M, Chen Rui, De Baere Elfride, Greenberg Michael E

Abstract excerpt

The interplay of transcription factors and cis-regulatory elements (CREs) orchestrates the dynamic and diverse genetic programs that assemble the human central nervous system (CNS) during development and maintain its function throughout life. Genetic variation within CREs plays a central role in phenotypic variation in complex traits including the risk of developing disease. We took advantage of the retina, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32265282
DOI: 10.1073/pnas.1922501117
PMCID: PMC7183164

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