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Human Genotyping Unit – CGEN

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SNP (Single Nucleotide Polymorphisms) are the most frequent type of genetic variation in the human genome although structural alterations such as deletions and duplications, known collectively as CNPs (Copy Number Polymorphisms) now appear to be more frequent than was originally supposed. Both types play an extremely relevant part in determining the inter-individual differences that indicate a susceptibility to the illness as well as possible responses to treatment. It is therefore critically important to develop new, high speed, high volume, economically viable technologies that will allow us to analyze hundreds of variations at a time in order to identify the specific ones that indicate a risk of developing the disease.

As an integral component of the National Genotyping Center (CEGEN, (CEGEN, www.cegen.org), CNIO’s genotyping unit is an initiative financed by Genome España (GE, www.gen-es.org) The unit can carry out large-volume SNP assays in humans, laboratory mice and other species as well as structural analysis of the variations and large-volume quantitative analysis of the methylation process.

The following listing highlights some of the services available through this unit.

  • Genotyping SNPs with Illumina technology, genotyping from 96 to 1M SNPs
  • Genotyping SNPs by means of Taqman/Kaspar probes: Genotyping 1-10 SNPs
  • CNP assays by means of Illumina technology.
  • Methylation analysis by means of Illumina technology: from 96 to 27,000 CpGs
  • Automatized DNA extraction from blood or other tissues
  • DNA quantitation by means of Picogreen
  • Whole genome amplification by means of GenomiPhi

The Unit will gladly support genotyping projects at all levels of complexity, including the selection of SNPs for analysis, along with DNA extraction, genotyping and interpreting the results. We also offer a bio-computerized support for the tools used in CNP analysis.

The Human Genotype Laboratory was accredited as a clinical laboratory in full compliance with directive UNE EN ISO/IEC 15189:2007 regulating the large-scale genotyping of SNPs (Cardiology and Nutrition) through the utilization of advanced technologies (nº 984/LE1873). The CNIO Unit is the first high performance genetics laboratory in all of Europe to be granted full accreditation. That alone stands as a guarantee of the technological competence and reliability of the results. For more information, please contact Anna Gonzalez-Neira at 91 224 6900 CNIO extension 3350.

ENAC ISO15189 Certification (PDF 330 kb)


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