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High Resolution Epigenomic Atlas of Early Human Craniofacial Development

View ORCID ProfileAndrea Wilderman, Jeffrey Kron, Jennifer VanOudenhove, James P. Noonan, View ORCID ProfileJustin Cotney
doi: https://doi.org/10.1101/135368
Andrea Wilderman
1Graduate Program in Genetics and Developmental Biology, UConn Health
2Department of Genetics and Genome Sciences, UConn Health
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  • ORCID record for Andrea Wilderman
Jeffrey Kron
2Department of Genetics and Genome Sciences, UConn Health
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Jennifer VanOudenhove
2Department of Genetics and Genome Sciences, UConn Health
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James P. Noonan
3Department of Genetics, Yale University School of Medicine
4Kavli Institute for Neuroscience, Yale University
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Justin Cotney
1Graduate Program in Genetics and Developmental Biology, UConn Health
2Department of Genetics and Genome Sciences, UConn Health
5Institute for Systems Genomics, University of Connecticut
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  • For correspondence: cotney@uchc.edu
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Abstract

Defects in embryonic patterning resulting in craniofacial abnormalities are common birth defects affecting up to 1 in 500 live births worldwide, and are mostly non-syndromic. The regulatory programs that build and shape the craniofacial complex are thought to be controlled by information encoded in the genome between genes and within intronic sequences. Early stages of human craniofacial development have not been interrogated with modern functional genomics techniques, preventing systematic analysis of genetic associations with craniofacial-specific regulatory sequences. Here we describe a comprehensive resource of craniofacial epigenomic annotations and systematic, integrative analysis with a variety of human tissues and cell types. We identified thousands of novel craniofacial enhancers and provide easily accessible genome annotations for craniofacial researchers and clinicians. We demonstrate the utility of our data to find likely causal variants for craniofacial abnormalities and identify a large enhancer cluster that interacts with HOXA genes during craniofacial development.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted May 10, 2017.
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High Resolution Epigenomic Atlas of Early Human Craniofacial Development
Andrea Wilderman, Jeffrey Kron, Jennifer VanOudenhove, James P. Noonan, Justin Cotney
bioRxiv 135368; doi: https://doi.org/10.1101/135368
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High Resolution Epigenomic Atlas of Early Human Craniofacial Development
Andrea Wilderman, Jeffrey Kron, Jennifer VanOudenhove, James P. Noonan, Justin Cotney
bioRxiv 135368; doi: https://doi.org/10.1101/135368

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