Genotyping and array-based epityping

Genotyping and array based methylation analysis is provided by NGI Uppsala (the SNP&SEQ Technology platform).

The most common application of SNP genotyping are genetic association studies in human diseases and in analysis of copy number variation (CNV), but SNP genotyping is also performed in population genetics and evolutionary studies in humans and in other organisms using fixed or custom-designed SNP panels.

For the availability of SNP panels with fixed content, please visit the Illumina website. Genome-wide profiling of methyl (5mC) and hydroxymethyl (5hmC) levels of CpG sites in humans is offered using the Infinium MethylationEPIC array from Illumina.

The following instruments for genotyping and methylation analysis are available:

  • Hidex Sense Genotyping of one to a few custom-selected SNPs.
  • MassARRAY (Agena Bioscience). Genotyping of a few to 384 custom-selected SNPs.
  • MiSeq (Illumina). Genotyping of 384 to 3072 custom-selected SNPs using the TruSeqCustomAmplicon method from Illumina.
  • 2 x iScan with Autoloader (Illumina). Genotyping of 3000 to 1 mill custom selected SNPs. Genotyping using fixed arrays in up to 5 mill SNPs in humans, animals and plants. Methylation (5mC) and hydroxymethylation (5hmC) analysis using the Illumina EPIC array.

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