ID

45312

Beschrijving

Principal Investigator: Terri H. Beaty, PhD, Johns Hopkins University School of Public Health, Baltimore, MD, USA MeSH: Cleft Lip,Cleft Palate,Congenital Abnormalities,Stomatognathic System Abnormalities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000459 Building upon our previous linkage and association studies, we will use whole exome sequencing studies of second and third degree affected relatives drawn from multiplex families. Our specific aims are: 1) To conduct whole exome sequencing on affected members (2° and 3° relatives) drawn from multiplex cleft families from a consortium to identify novel genes causing non-syndromic oral clefts; 2) To confirm and test the role of rare variants in these novel genes through confirmatory Sanger sequencing, plus linkage information using additional members available in these multiplex families. This whole exome sequencing approach will combine evidence from linkage studies and large scale sequencing to identify novel genes causing oral clefts in multiplex cleft families.

Link

dbGaP study = phs000459

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1. 23/10/22 23/10/22 - Adrian Schulz

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Terri H. Beaty, PhD, Johns Hopkins University School of Public Health, Baltimore, MD, USA

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23 de octubre de 2022

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