<p>The Illumina Infinium HumanExome+ BeadChip contains putative functional exonic variants selected from individual exome and whole-genome sequences from diverse populations. It includes nonsynonymous variants, splice variants and stop-altering variants. It also includes tags for previous GWAS-identified loci, ancestry informative markers, markers designed for identity by descent analyses, synonymous variants, fingerprint SNPs common to major genotyping platforms, mitochondrial SNPs, chromosome Y SNPs, and HLA tag SNPs. For more information as well as a detailed description of the variant calling and QC procedures, see Li et al. (2016).</p> <p>Li, D., et al. (2016) A pleiotropic missense variant in SLC39A8 is associated with Crohn's disease and human gut microbiome composition. Gastroenterology, 151, 1-9. PMID: <a href="https://www.ncbi.nlm.nih.gov/pubmed/27492617">27492617</a>.</p>

NIDDK IBD Genetics Consortium Repository Exome Chip

1 selected publication including "A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's D..." (131 citations)

NIDDK IBD Genetics Consortium Repository Exome Chip

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition.