The first complete sequence of the human genome was published in 2003 and until now complete sequences have been published for hundreds of organisms and it is possible to characterise the function of the genes discovered in those organisms thanks to the signatures analysis of gene expression by means of microarrays, the phenotypical analysis of mutants or the protein interaction analysis. This knowledge also makes it possible to characterise microsatellites or polymorphisms of nucleotides (SNPs) and mutations associated with certain phenotypes.

Many research groups are currently working on projects that include genetic studies. The Genomics Platform (GP) of the Biodonostia HRI was created with a view to providing the necessary knowledge and equipment to researchers plus assistance to the scientific community in general in order to help them in their research.

The Genomics Platform offers advice for, and interaction with, research groups to help them implement the most appropriate genomic and transcriptomic techniques for the biological problems being studied and also to help them design and/or refine new experimental approaches. For that purpose the platform has a qualified staff, the latest techniques and equipment for sequencing, genotyping and analyzing gene expression and a lab which was designed following recommendations based on good laboratory practices.

The Biodonostia HRI Genomics Platform is a benchmark agent in Ion Torrent technology use.

The platform manages its processes according to the guidelines of Standard UNE-EN ISO 9001:2015, while its Quality Management System is certified by AENOR. This lends added value to the work carried out by the Platform, particularly with a view to external applicants for its services, and fosters trust regarding the extent of the Quality applied to the processing of their requests.

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