Justin Cotney. Epigenomic Atlas of Early Human Craniofacial Development

Defects in patterning during human embryonic development frequently result in craniofacial abnor- malities. The gene regulatory programs that build the craniofacial complex are likely controlled by in- formation located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the hu- man face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associ- ated with normal facial variation are enriched near the end of the embryonic period. These data are provided in easily accessible formats for both craniofacial researchers and clinicians to aid future experimental design and interpretation of noncoding variation in those affected by craniofacial abnormalities.