A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf
.
Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease
2020
Proceedings of the National Academy of Sciences of the United States of America
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 well-characterized region of the CNS known to be affected by pathogenic variants in
doi:10.1073/pnas.1922501117
pmid:32265282
fatcat:cly2lgnfwvfoxhzywxkc72oiwy