SNP Genotyping and CNV Analysis

Both Affymetrix and Illumina offer solutions for SNP genotyping for genome-wide association studies and CNV analysis for analysis of structural variation. The core facility provides wet lab and data analysis services for each platform.

Affymetrix SNP Genotyping and CNV analysis

The Affymetrix Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation.

The next-generation Affymetrix Cytogenetics Research Solution includes arrays, reagents, and analysis software for the detection of a broad range of chromosome aberrations affecting phenotypes. The high-resolution array offers 2.7 million markers across the entire genome, including 400,000 SNPs to detect small structural changes and regions of autozygosity.

Other Affymetrix arrays include the Genome-Wide Human SNP Array 5.0 and the Human Mapping 500K Array Set.

Illumina SNP Genotyping and CNV analysis

Infinium HD BeadChips offer GWAS researchers the flexibility to profile samples with 300,000 to 1.2 million markers in high-throughput format, and deliver dense genome-wide coverage with the most up-to-date content available from the scientific community.

Strategically selected probes provide sensitive copy number variation analysis and target high-value regions of the genome associated with disease.

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