Genotyping

Comprehensive Coverage, Uniform Spacing

All whole-genome Infinium products start with a broad set of tag SNPs derived from the International HapMap Project, providing unrivaled coverage and uniformity across the genome. Other valuable coverage includes SNPs within 10kb of RefSeq genes, non-synonymous SNPs, ADME SNPs, and SNPs found in the MHC region. With median marker spacing down to 1.5kb, Infinium HD BeadChips are a powerful tool for structural variation discovery and support cytogeneticists interested in high-resolution breakpoint mapping.

Dense Markers, Sensitive CNV Detection

Because some regions of the genome are underrepresented by SNP loci, Illumina, in collaboration with deCODE genetics, blanketed this unSNPable genome with additional non-polymorphic markers. This coverage includes difficult-to-analyze regions like megasatellites and segmental duplications, which are targeted with both SNPs and non-polymorphic probes. All Infinium HD BeadChip markers have an average 15-18 fold redundancy, yielding low overall noise (average std dev log R ratios < 0.2) for copy number measurements.

Infinium II Assay Workflow