Microarrays for DNA Analysis
Genome Explorations, in conjunction with Affymetrix, offers genome-wide SNP array 6.0 featuring 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 SNP Array 6.0 is the only platform with analysis tools to truly bridge copy number and association, including a new, high-resolution reference map and a copy number polymorphism (CNP) calling algorithm developed by the Broad Institute. The SNP Array 6.0 demonstrates industry-leading performance and represents more genetic sequence variation on a single array than any other product, providing maximum panel power and the highest physical coverage of the genome.
Human Cytogenetic Analysis
Genome Explorations, in conjunction with Affymetrix, offers the most comprehensive Human Cytogentic analysis, providing unbiased and reliable whole-genome coverage at unparalleled resolution, using over 2.6 million markers (including 750,000 unique SNPs) to detect deletions, duplications/amplifications, copy-neutral LOH (but not balanced translocations or inversions), whole chromosome uniparental isodisomy (UPD) and regions identical-by-descent. Traditional cytogenetics techniques such as karyotyping and fluorescent in situ hybridization (FISH) have been used to study chromosomal abnormalities for decades, but these techniques are limited to only providing low-resolution copy number information based on qualitative visualization. CytoScan HD provides the broadest coverage of all known genes in OMIM and RefSeq, including constitutional, cancer-related and haplo-insufficiency genes, and can detect small submicroscopic chromosomal aberrations that are missed with classical techniques, with precise delineation of chromosomal breakpoints (averages 1 probe per 3 kb within genes and 1 probe per 5 kb without). This array provides greater than 99 percent sensitivity and 99 percent specificity for copy number changes of at least 400 kb and SNP (allelic) call corroboration, and can be used to assess genetic mosaicism and sample heterogeneity.