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Clinical and Translational Bioinformatics

Our main research aims at understanding the molecular basis of hereditary disease, integrating two complementary aspects: the molecular impact of genetic variants and the regulatory role of genetic background. At a technical level, to reach our objective, we integrate the results of the most advanced genomic experiments (single-cell RNAsq, NGS sequencing, etc.) using state-of-the-art machine learning tools.

As a result of our efforts, we have recently made significant advances in understanding the functional effect of BRCA1/2 protein variants underlying hereditary breast and ovarian cancers. In fact, the methodology developed earned us the second position in the group classification at the international competition CAGI 5, held in 2019.

Publications

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

PMID: 30848931
Journal: FASEB JOURNAL
Year: 2019
Reference: FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.
Impact factor: 5.391
Publication type: Paper in international publication
Authors: Blazquez-Bermejo, Cora, Carreno-Gago, Lidia, Molina-Granada, David, Aguirre, Josu, Ramon, Javier, Torres-Torronteras, Javier, Cabrera-Perez, Raquel, Martin, Miguel Angel, Dominguez-Gonzalez, Cristina, de la Cruz, Xavier et al.
DOI: 10.1096/fj.201801591R

Blog

News

The Clinical and Translational Bioinformatics Group at VHIR has been responsible for the computational analysis of two international genetic studies led by the Children's Hospital of Philadelphia.

The Clinical and Translational Bioinformatics group is launching the project to use cutting-edge artificial intelligence in the identification of pathogenic variants.