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Discovering the Genetic Basis of Cleft Palate: CIDR

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NIAID Data Ecosystem2026-04-25 收录
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs002220.v1.p1
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Probands diagnosed with cleft palate where DNA was also available from both parents were eligible for inclusion in this study.]]> Orofacial clefts (OFCs) are genetically complex structural birth defects caused by genetic factors, environmental exposures, and their interactions. OFCs are the most common craniofacial anomalies in humans but affect populations worldwide with variable frequency. In order to understand the etiology of these common birth defects, the investigators involved in this collaboration have recruited large numbers of OFC families from many countries world-wide through many years of collaborative studies including the first genome-wide association studies of cleft palate. This project focuses on whole genome sequencing (WGS) in cleft palate to identify additional causal factors.]]>
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2020-08-14
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