Targeted Sequencing of GWAS Loci in Cleft Lip and Palate

Study ID Alternative Stable ID Type
phs000625 Parent-Offspring Trios

Study Description

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 ... (Show More)

Archive Link Archive Accession
dbGaP phs000625

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