The main objective of our research group is the identification and validation of genetic variants (e.g. single nucleotide polymorphisms or differential methylation) implicated in common human complex diseases.
To achieve this, we examine complete genomes of patients and control individuals using mostly high-throughput genotyping and sequencing techniques.
We also develop bioinformatics tools for the analysis of the data. These supply biological interpretation of the results by examining
the functionality of the identified genes, and by investigating their involvement in the aetiology of diseases and their possible mechanism of action.
CIC bioGUNE’s Genome Analysis Platform collaborates with the following projects:
- Systems Biology of Non Alcoholic Fatty Liver Diseases (Collaboration with Prof. Jose M. Mato and Dr. Maria Luz Martínez at CIC bioGUNE, Derio, Spain and CIBERehd)
- Genetics Work-Package within the COEDUCA: Cognition and Education (CSD2008-0004/WP6 Consolider-Ingenio 2010, Collaboration with Prof. Manuel Carreiras at BCBL, Donostia-San_Sebastian, Spain)
- The role of Sall proteins and SUMO in development and steroidogenesis (PN/PIA12011-1, Collaboration with Dr. Rosa Barrio at CIC bioGUNE, Derio, Spain)
- Functional and therapeutic implications in solid organ transplant (FIS/PI12702587, Collaboration with Dr. Carlos Larrea at Hospital Central de Asturias, Oviedo, Spain).
- Evaluation of non-coding RNAs as non-invasive biomarkers of precancerous gastric lesions in patients infected with Helicobacter pylori (FIS/ PI12/01802, Collaboration with Dr. Mireia Miquel at Hospital Parc Tauli and CIBERehd)
- High Throughput technologies Set-up for the study of Collaborative CROSS mice (Part of SYSGENET consortium, COST action BM0901 at FP7, http://www.helmholtz-hzi.de/en/research/research_projects/view/projekt/projekt/sysgenet/)
- Genetic characterization of treatment response in colorectal patients (Collaboration with Dr. Maria Luisa Maestro de las Casas at Hospital Clinico San Carlos, Madrid, Spain)
- Epigenetic characterization of neural system development (Collaboration with Prof. Jose M. Mato and Dr. Ashwin Woodhoo at CIC bioGUNE, Derio, Spain)
- Exosomes genetic content classification (Collaboration with Dr. Juan Manuel Falcon at CIC bioGUNE, Derio, Spain)
- Discovery of genetic variants associated with Alzheimer's disease by means of high-throughput SNP genotyping (Collaboration with Dr. Alfredo Antigüedad at Hospital de Basurto, Bizkaia, Spain)
SNP genotyping and cytogenetic/CNV analysis:
- Whole genome and cytogenetic/CNV analysis
- Focused genotyping
- Custom genotyping
- Linkage analysis
Gene expression analysis:
Next generation sequencing:
- DNA de novo sequencing
- DNA targeted resequencing (optional target enrichment)
- Chromatin immunoprecipitated DNA sequencing (ChIP-Seq)
- Methylated DNA sequencing
- Small RNA discovery
- Custom region enrichment
- Association studies
- Epigenetic analysis (methylation)
- Differential gene expression analysis
- DNA de novo sequencing
- DNA targeted resequencing (optional target enrichment) analysis
- Chromatin immunoprecipitated DNA sequencing (ChIP-Seq) analysis
- Methylated DNA sequencing analysis
- mRNA-Seq analysis
- Small RNA discovery analysis
Please see Services entry in the menu for services access and description.
We are located at the Bizkaia Technology Park, near the city of Bilbao.
Parque Tecnológico de Bizkaia, Ed. 502, floor 0
48160 Derio, Bizkaia, Spain
Tel: +34 946 572 524 (ext. 420)
Fax: +34 946 568 732