Targeted / Functional SNP Genotyping
Targeted genotyping functional SNP arrays offer a range of human application-specific fixed assays, which allow disease specific and focused genotyping applications. The AGRF offers full service processing on all catalogue application-specific fixed arrays, which utilize molecular inversion probe (MIP) technology and are run on the Affymetrix GeneChip Scanner 3000 7G MegAllele system. Our service includes all kits and reagents, extensive quality monitoring and options for customised analysis.
Targeted Genotyping Functional SNP: Sample Submission Requirements
The current Affymetrix catalogue human application specific fixed assays include:
Targeted Genotyping GeneChip Human (Panel 1) 10K cSNP
Contains 10, 000 amino acid changing SNPs with a median interval of less than 100kb between SNPs, multiplexed into a single assay. The 10K cSNP array includes more than 8,000 genes with validated (double-hit) non-synonymous public SNPs that code for functional changes. This panel allows direct detection of disease alleles via cSNP associations to biological pathways and gene function.
Targeted Genotyping GeneChip Human (Panels 1 & 2) 20K cSNP
Consists of two panels with containing 20,000 amino acid changing SNPs representing more than 10,000 genes. In addition to panel 1, this kit incorporates an additional 10,000 cSNPs that have been independently validated at Affymetrix that code for functional changes. Combined, these panels hae an overall median interval of less than 70kb between SNPs.
Targeted Genotyping GeneChip Human Immune and Inflamation 9K SNP
Contains 9,000 SNPs spanning approximately 1,000 genes implicated in or thought to be involved in human immune and inflammatory response. This array combines tagging SNPs with functional SNPs with an average of 10 SNPs per gene.
Targeted Genotyping GeneChip Human MALD 3K SNP
This array is designed for admixture mapping studies or mapping by admixture linkage disequilibrium (MALD). The MALD panel is a high-density marker map for admixed populations; SNPs selected for inclusion are highly differentiated and particularly informative with 1 SNP every 300-350kb, making this panel particularly useful in the study of genes in the etiology of diseases that have large differences in frequency across ethnic populations.
Click here for more information on any of these human application-specific fixed assays.
The AGRF also offers full service processing on custom targeted genotyping SNP kits. Affymetrix targeted genotyping offers custom human SNP kits in 3K, 5K and 10K SNP configurations allowing custom panel design and custom reagent kits. Click here for more information on how to order custom SNP kits.
Targeted Genotyping Functional SNP Service process
