ID
45405
Beschreibung
Principal Investigator: MeSH: Orofacial Cleft, Nonsyndromic,Cleft Lip,Cleft Palate https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000625 Nonsyndromic cleft lip and palate (NSCL/P) is a complex disorder caused by both genetic and environmental factors and has been the focus of an extensive effort to identify genetic risk factors. A number of candidate gene studies have been performed but have not been widely replicated. To date, four independent genome wide association studies have been performed as well as a meta-analysis. Together these studies have identified many loci associated with NSCL/P. The goal of this project is to use targeted sequencing to further characterize these regions and to progress from the association signals identified by GWAS to the identification of causative genes and/or variants. This study is part of the GWASeq project, a collaboration of five disease studies, which will sequence genomic regions from GWAS to characterize the genetic variation underlying these diseases and to compare study design and methods for the follow-up of GWAS studies by sequencing. The goal of this study is to sequence 1000+ NSCL/P case-parent trios from China and the Philippines and 400 trios of European ancestry. Targeted sequencing was performed on intervals ranging between 60kb to 1Mb surrounding 13 genes/loci previously associated with NSCL/P including: IRF6, MAFB, ARHGAP29, 8q24, PAX7, VAX1, NTN1, NOG, FOXE1, MSX1, BMP4, FGFR2, PTCH1.
Link
Stichworte
Versionen (1)
- 19.11.22 19.11.22 - Chiara Middel
Rechteinhaber
Richard K. Wilson, Washington University School of Medicine, St. Louis, MO, USA. George Weinstock, Washington University School of Medicine, St. Louis, MO, USA. Jeff Murray, University of Iowa, Iowa City, IA, USA.
Hochgeladen am
19. November 2022
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs000625 Targeted Sequencing of GWAS Loci in Cleft Lip and Palate
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, subject aliasees, and affection status for cleft lip and palate.
- The pedigree data table contains family ID, subject ID, father and mother ID, gender, and twin ID.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype table includes subject gender, race of subject and parents, cleft status of subject and parents, syndromic diagnosis, family history of clefting, and participant's mother's smoking status, alcohol intake, and vitamin intake during pregnancy.
- The sample attributes table includes analyte type and tumor status.
Ähnliche Modelle
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent information, subject aliasees, and affection status for cleft lip and palate.
- The pedigree data table contains family ID, subject ID, father and mother ID, gender, and twin ID.
- The subject sample mapping data table contains mapping of study subject IDs to sample IDs. dbGaP samples are defined as the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype table includes subject gender, race of subject and parents, cleft status of subject and parents, syndromic diagnosis, family history of clefting, and participant's mother's smoking status, alcohol intake, and vitamin intake during pregnancy.
- The sample attributes table includes analyte type and tumor status.
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