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Genotyping/CNV

At the Microarray Core Facility we provide access to full service of state-of-the-art genotyping of customized SNP sets, focused SNP sets, and genome-wide screens covering up to 5.000.000 SNPs on BeadChips (Illumina). Beside standard genotyping, we support loss-of heterocygosity (LOH), and copy number variation (CNV) studies. For the analysis of genetic variation and function, we make use of the Illumina Beadchip technology.

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Whole Genome Genotyping
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Genotyping / CNV Analysis

Genotyping provides a measurement of the genetic variation between members of a species. Single nucleotide polymorphisms (SNP) are the most common type of genetic variation. A SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency is >1%; random definition). SNPs are often found to be the etiology of many human diseases. Because SNPs are evolutionary conserved, they have been proposed as a markers for use in quantitative trait loci (QTL) analysis and in association studies. Previously these studies were done using microsatellites.

Genome-wide SNP Analysis

We provide service, using all available Illumina Infinium BeadChips that carry a fixed-content of SNPs for whole genome genotyping screens. This offers virtually unconstrained locus selection for high-value content coupled with high resolution. Until now we've analyzed more than 2000 samples. Find more details on genome-wide genotyping here.

Applications include

  • Whole-genome association studies
  • Fine-mapping studies
  • Whole genome LOH / copy number variation analysis (CNV)
  • cytogenetic analysis
  • Disease-associated copy number variation analysis

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