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Human Genomics Analysis Interface | FaceBase

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Human Genomics Analysis Interface


dbGaP Study Accession: phs000094.v1.p1.
Principal Investigator: Terri H. Beaty, Johns Hopkins School of Public Health, Baltimore, MD, USA
Funding Source: U01-DE018993. International Consortium to Identify Genes and Interactions Controlling Oral Clefts. National Institutes of Health, Bethesda, MD, USA

Oral clefts represent the most common group of craniofacial birth defects in humans, and include cleft lip with or without cleft palate (CL/P) and cleft palate (CP). Oral clefts have a complex and heterogeneous etiology, with strong evidence for both genetic and environmental causal factors. Candidate gene studies and genome wide linkage studies have yielded compelling but inconsistent evidence that multiple genes control risk, and several studies have shown evidence for interaction between genes and environmental exposures, especially maternal smoking and nutrient intake. This consortium assembled a large collection of cases and their parents from multiple populations for genome wide association studies as part of the Gene Environment Association Studies initiative (GENEVA), which was developed through the trans-NIH Genes, Environment, and Health Initiative (GEI). Genotyping was performed at the Johns Hopkins University Center for Inherited Disease Research (CIDR). The study was supported by the National Institute of Dental and Craniofacial Research (NIDCR). Data cleaning and harmonization were done at the GEI-funded GENEVA Coordinating Center at the University of Washington.

Information on how to obtain individual level data is available on dbGap.