Center for Common Disease Genomics [CCDG] - Autoimmune: Inflammatory Bowel Disease (IBD) Exomes and Genomes
The National Human Genome Research Institute (NHGRI) has funded a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes. Called the Centers for Common Disease Genomics (CCDG), this initiative will explore a range of diseases with the ultimate goal of: undertaking variant discovery for enough different examples of disease architectures and study designs to better understand the general principles of the genomic architecture underlying common, complex inherited diseases; understanding how best to design rare variant studies for common disease; developing resources, informatics tools, and innovative approaches and technologies for multiple disease research communities and the wider biomedical research community. The initial focus of the CCDGs will be in cardiovascular disease (early-onset coronary artery disease, atrial fibrillation, hemorrhagic stroke), neuropsychiatric disease (epilepsy, autism), and autoimmune/inflammatory disease (type 1 diabetes, inflammatory bowel disease). The Broad Institute is one of four selected CCDG project centers. The overarching aim of the Inflammatory Bowel Disease (IBD) program is to define the full allelic spectrum of protein-altering variation in genes associated to IBD, and assess their role in both Crohn's Disease (CD) and Ulcerative Colitis (UC) risk. The whole genome sequencing data generated here is comprised of samples from US-based diverse populations including African American, Puerto-Rican, Caribean and Cuban origins.
This study has been divided into the following workspaces by consent codes and optionally the originating laboratory.
|Terra Workspace Name||Consent Code||Disease||Access||Study Design||Data Type||Samples||Participants||Size (TB)|
|AnVIL_CCDG_Broad_AI_IBD_Brant_DS-IBD_WGS||DS-GI||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||199||177||2.61|
|AnVIL_CCDG_Broad_AI_IBD_Brant_HMB_WGS||DS-GI||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||904||904||12.40|
|AnVIL_CCDG_Broad_AI_IBD_Cho_WGS||HMB||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||344||253||5.26|
|AnVIL_CCDG_Broad_AI_IBD_Kugathasan_WGS||GRU||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||1,351||1,348||17.30|
|AnVIL_CCDG_Broad_AI_IBD_McCauley_WGS||HMB||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||913||1,087||11.50|
|AnVIL_CCDG_Broad_AI_IBD_McGovern_WGS||GRU||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||1,633||1,565||23.40|
|AnVIL_CCDG_Broad_AI_IBD_Newberry_WGS||DS-GI||inflammatory bowel disease||Controlled Access||Case-Control||Whole Genome||31||25||0.39|