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Human Genotyping Unit – CEGEN

Head of Unit: Anna González-Neira

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation in the human genome although structural variation changes, such as deletion and duplications, referred to as copy number polymorphisms (CNPs) are proving to be more common than expected. Both types of variants play an important role in the interindividual differences observed in relation to disease susceptibility and response to drug therapy. The development of faster and cheaper technologies is required to allow researchers to scan hundreds of these genetic differences at once, in order to link a particular variation to disease risk.

The Genotyping Unit at the CNIO in Madrid as part of the National Genotyping Centre (CeGen, www.cegen.org), an initiative of Genoma España (GE, www.gen-es.org) offers a high-throughput SNP genotyping facility for human, mouse and other species samples. It also provides a comprehensive infrastructure for copy number variation analysis on a genome-wide scale. In addition, the unit performs quantitative methylation measurements, offering the highest resolution for understanding epigenetic changes.

Following are listed the genotyping and related services available at the Unit:

  • SNP genotyping by Illumina technology: genotyping of 96 to 1 M SNPs
  • SNP genotyping by Taqman/Kaspar probes: genotyping of 1-10 SNPs
  • CNP analysis by Illumina technology
  • Metlylation analysis by Illumina technology: from 96 to 27.000 CpG analysis
  • Automated DNA extraction from blood or other tissues
  • DNA quantification using Picogreen
  • Whole Genome Amplification using GenomiPhi

The Genotyping Core provides support in genotyping projects in every aspect of research; from design, SNP selection, DNA extraction, genotyping and data interpretation. Bioinformatic support is offered to help in the use of tools for CNPs analysis.

The Human Genotyping laboratory has been accredited as a clinical laboratory, according to the specific requirements established in UNE EN ISO 15189:2007 standard, for large-scale SNPs (Cardiology and Nutrition) genotyping using high throughput technologies (no. 984/LE 1873). It is the first genetics laboratory providing high throughput technology accredited in Europe.

This accreditation ensures expertise and reliability of the results obtained by laboratory.

For further information about the services, please contact at CNIO with Anna Gonzalez Neira (912246900 ext 3350)

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