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GENERAL GENOMICS SERVICE SEQUENCING AND GENOTYPING UNIT

Introduction

Numerous research groups are involved in projects that incorporate genomic studies. However, the high cost of the equipment and the specialized nature of the techniques make it difficult for each research group to have the necessary equipment for mass genotyping and expression analysis.

The Sequencing and Genotyping Unit of the University of the Basque Country, UPV/EHU, has been established in order to provide both the knowledge and the equipment necessary for researchers from the Basque Network of Science, Technology and Innovation, to biocompanies of the environment, as well as to Public and Private Institutions throughout the state and international scope, in basic, applied and/or clinical diagnostic research activities. For this, it has qualified personnel, the most advanced techniques and equipment in DNA sequencing and genotyping and a recently created laboratory designed following the recommendations of good laboratory practices.

This unit has a wide range of Services, with the following main lines:

  • Extraction, quantification and quality check of DNA from various supports (fluids, tissues, buccal swabs, paraffin samples, cell cultures, soils, waters, sediments, faeces,...).
  • Classic DNA sequencing (Sanger + capillary electrophoresis)
  • Mass sequencing (NGS):
    • Library generation: metagenomics, metabarcoding, shotgun metagenomics, amplicons, genes, exomes, genomes, targeted sequencing, custom panels, …
    • Illumina Platform for Massive Sequencing (NGS): MiSeq, NextSeq, NovaSeq equipment that allows to cover the entire range of scales currently existing for carrying out NGS analysis.
  • Genotyping of DNA markers by capillary electrophoresis, qPCR or nanofluidics (Fluidigm platform): microsatellites, SNPs, CNVs, …
  • Individual identification and kinship in humans and animals (STRs and mtDNA).
  • Detection of mutants (genetically modified animals, …)
  • Identification of species and subspecies through phylogenetic studies (hares, termites, ...).
  • Advice and training.

The quality of Sequencing and Genotyping is endorsed by international genetic analysis societies through the participation of the UPV/EHU Service in numerous quality control and homologation exercises for genotyping in humans (approved by the Spanish and Portuguese Group of the International Society of Forensic Genetics; GEP-ISFG) and domestic animals (Comparison test of the International Society of Animal Genetic; ISAG).