- SeqCap Epi Developer XL Design: 31010_HG19_EG_met_EPI
- Organism: Homo sapiens (human)
- Genome Build: GRCh37/hg19
- Design File: McGill_human_disease_methylome.zip (10 Mb .zip)
- Collaborator: Dr. Elin Grundberg, McGill University and Genome Quebec Innovation Centre, Department of Human Genetics, McGill University, Montreal, Quebec, Canada
- Specifications/Details: The panel targets 156Mb of sequence spanning ~4.5 million unique CpGs ( ~9 million total CpGs) and ~3 million autosomal SNPs from dbSNP137 allowing researchers to do simultaneous epigenome- and genome wide association studies focusing on metabolic diseases and related traits.
The regions targeted by the panel aim to cover the functional methylome including:
- CpGs contained within low and unmethylated regions identified from large-scale whole-genome bisulfite sequencing data from human adipose tissue and associated with enhancers and promoters, respectively.
- Additional CpGs located within human adipocyte regulatory elements (H3K4me1 and H3K4me3 marking enhancers and promoters, respectively) profiled by the NIH Roadmap Epigenomics Mapping Consortium.
- All ~480,000 CpGs from the Illumina 450K array.
Of the ~3 million SNPs covered by the panel, the following variants are included:
- About 30,000 regions covering metabolic disease associated GWAS loci from the NHGRI GWAS catalog (9 January, 2014)
- About 250,000 highly-informative genome-wide tag SNPs found across diverse world populations from the Illumina HumanCore BeadChip.
Product Name: SeqCap Epi Developer XL Enrichment Kit
Design Name: 131010_HG19_EG_met_EPI
Reference #: 4000019550
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