ID
45312
Descrição
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.
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- 23/10/2022 23/10/2022 - Adrian Schulz
Titular dos direitos
Terri H. Beaty, PhD, Johns Hopkins University School of Public Health, Baltimore, MD, USA
Transferido a
23 de outubro de 2022
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000459 CIDR Whole Exome sequencing of multiplex cleft families
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Eligibility Criteria
C0680251 (UMLS CUI [1,2])