SNP genotyping

SNPs (Single-Nucleotide Polymorphism) are the most important source of variability and one of the most common types of genetic variation.

They are crucial in many biological studies (pharmacogenetics and evolutionary genetics) to determine disease susceptibilities, measure the efficacy of a personalized treatment or characterize population structures. In ecology, SNP genotyping is useful for genome-wide association studies (GWAS) and genomic selection.

With high-density oligonucleotide SNP arrays, several million of SNPs can be tested simultaneously. Helixio offers two types of technologies according to the chosen scientific approach: Illumina SNP Genotyping microarray and Agilent CGH+SNP microarray.

Single-Nucleotide Polymorphism genotyping

Infinimum HD Technology

The standard Infinium HD assays enable to interrogate 300 000 to 5 million markers on hundred or thousand samples to fit the most common genotyping project needs. Many BeadChips are available for human sample analysis allowing the characterization of frequent and rare variants (to 1% allelic frequency) identified in the ‘1000 Genomes’ and HapMap projects. Markers are selected by Illumina scientists to provide maximum coverage. Animal and plant genomes are available too.

iSelect HD Custom Genotyping enables genotyping studies for any species. With the flexibility of the HD assay and the array formats, the custom beadchips can be dedicated to specific human SNPs characterization or to other animal, plant or prokaryote species. We can assist you in designing custom SNPs panel.

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GoldenGate Technology

As custom Infinium HD assays, GoldenGate technology is designed for genotyping SNPs from 48 to 3072 markers.

genotyping SNPs microarray analysis

microarray analysis

The Agilent CGH+SNP microarrays are dual color array containing CGH and SNP probes synthesized in situ. It allows simultaneous detection of copy number changes and copy neutral aberrations. Multiple microarray formats are available and probes are annotated against NCBI Build 37.

Custom microarrays can be designed according to your specifications. Using Agilent’s SureDesign application, users can consider their own CGH+SNP microarrays to detect copy number changes, loss of heterozygosity and uniparental disomy on the same array. Helixio can assist you in designing your panel.

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