OFC2: Targeted Sequencing of CL/P GWAS Loci

[**Link to project pages of OFC2: Targeted Sequencing of CL/P GWAS Loci**](http://www.facebase.orh/hgai/OFC2.html) [dbGaP Study Accession: phs000625.v1.p1](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000625.v1.p1) Principal Investigators: [Jeffrey C. Murray](https://genetics.grad.uiowa.edu/faculty/jeffrey-c-murray), University of Iowa, Iowa City, IA, USA [Mary L. Marazita](https://www.dental.pitt.edu/person/mary-l-marazita), University of Pittsburgh, Pittsburgh, PA, USA [Richard K. Wilson](https://en.wikipedia.org/wiki/Richard_K._Wilson), Washington University School of Medicine, St. Louis, MO, USA [George Weinstock](https://www.jax.org/research-and-faculty/faculty/george-weinstock) , Jackson Laboratory for Genomic Medicine, Farmington, CT, USA Funding Source: U01-HG005925. Sequencing of Significant Signals from Cleft Lip GWAS. National Institutes of Health, Bethesda, MD, USA. 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. Sequencing was performed at the Genome Institute at Washington University. Click [here](/hgai/OFC2.html) to access the data and results for this dataset.