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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,4,21]]},"abstract":"<jats:p>\n                    The interplay of transcription factors and\n                    <jats:italic>cis<\/jats:italic>\n                    -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 CREs, to establish a roadmap for characterizing regulatory variation in the human CNS. This comprehensive analysis of tissue-specific regulatory elements, transcription factor binding, and gene expression programs in three regions of the human visual system (retina, macula, and retinal pigment epithelium\/choroid) reveals features of regulatory element evolution that shape tissue-specific gene expression programs and defines regulatory elements with the potential to contribute to Mendelian and complex disorders of human vision.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1922501117","type":"journal-article","created":{"date-parts":[[2020,4,7]],"date-time":"2020-04-07T18:15:49Z","timestamp":1586283349000},"page":"9001-9012","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":118,"title":["Mapping the\n                    <i>cis<\/i>\n                    -regulatory architecture of the human retina reveals noncoding genetic variation in disease"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1532-9856","authenticated-orcid":false,"given":"Timothy J.","family":"Cherry","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98101;"},{"name":"Department of Ophthalmology, University of Washington School of Medicine, Seattle, WA 98101;"},{"name":"Department of Biological Structure, University of Washington School of Medicine, Seattle, WA 98101;"},{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children\u2019s Research Institute, Seattle, WA 98101;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5788-3092","authenticated-orcid":false,"given":"Marty G.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Harvard Medical School, Boston, MA 02115;"},{"name":"Program in Neuroscience, Harvard Medical School, Boston, MA 02115;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Harmin","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Harvard Medical School, Boston, MA 02115;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Tao","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Harvard Medical School, Boston, MA 02115;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-4012","authenticated-orcid":false,"given":"Andrew E.","family":"Timms","sequence":"additional","affiliation":[{"name":"Center for Developmental Biology and Regenerative Medicine, Seattle Children\u2019s Research Institute, Seattle, WA 98101;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Bauwens","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3344-4447","authenticated-orcid":false,"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University, New York, NY 10032;"},{"name":"Department of Pathology and Cell Biology, Columbia University, New York, NY 10032;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan M.","family":"Jones","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411;"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3411"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411;"},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3411"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elfride","family":"De Baere","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1380-2160","authenticated-orcid":false,"given":"Michael E.","family":"Greenberg","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, Harvard Medical School, Boston, MA 02115;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2020,4,7]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1016\/j.cell.2013.11.033","article-title":"Rapid and pervasive changes in genome-wide enhancer usage during mammalian development","volume":"155","author":"Nord A. 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