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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

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

PMID: 33280026
Journal: CLINICAL CHEMISTRY
Year: 2021
Reference: Clin Chem. 2021 Mar 1;67(3):518-533. doi: 10.1093/clinchem/hvaa250.
Impact factor:
Publication type: Paper in international publication
Authors: Blanco, Ana; Capella, Gabriel; de la Cruz, Xavier; de la Hoya, Miguel; Diez, Orland; Feliubadalo, Lidia; Gutierrez-Enriquez, Sara; Lazaro, Conxi; Lopez-Novo, Anael; Moles-Fernandez, Alejandro et al.
DOI: 10.1093/clinchem/hvaa250

Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.

PMID: 30934865
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2019
Reference: Int J Mol Sci. 2019 Mar 29;20(7). pii: ijms20071583. doi: 10.3390/ijms20071583.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, Josu; de la Cruz, Xavier; Fernandez-Recio, Juan; Navio, Damaris; Rosell, Mireia et al.
DOI: 10.3390/ijms20071583

Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells.

PMID: 30568281
Journal: NEUROPSYCHOPHARMACOLOGY
Year: 2019
Reference: Neuropsychopharmacology. 2019 Apr;44(5):890-897. doi: 10.1038/s41386-018-0297-0. Epub 2018 Dec 19.
Impact factor:
Publication type: Paper in international publication
Authors: Arias-Vasquez, Alejandro; Artigas, Maria Soler; Casas, Miguel; Corrales, Montse; de la Cruz, Xavier; Fadeuilhe, Christian; Franke, Barbara; Garcia-Martinez, Iris; Padilla, Natalia; Pagerols, Mireia et al.
DOI: 10.1038/s41386-018-0297-0

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:
Publication type: Paper in international publication
Authors: Aguirre, Josu; Blazquez-Bermejo, Cora; Cabrera-Perez, Raquel; Camara, Yolanda; Carreno-Gago, Lidia; de la Cruz, Xavier; Dominguez-Gonzalez, Cristina; Garcia-Arumi, Elena; Lombes, Anne; Marti, Ramon et al.
DOI: 10.1096/fj.201801591R

Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.

PMID: 31294896
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23.
Impact factor: 4.453
Publication type: Paper in international publication
Authors: Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T, Spurdle, Amanda B, Goldgar, David E, Savojardo, Castrense, Riera, Casandra, Radivojac, Predrag, Pejaver, Vikas et al.
DOI: 10.1002/humu.23861

PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.

PMID: 28453649
Journal: NUCLEIC ACIDS RESEARCH
Year: 2017
Reference: Nucleic Acids Res. 2017 Jul 3;45(W1):W222-W228. doi: 10.1093/nar/gkx313.
Impact factor:
Publication type: Paper in international publication
Authors: de la Cruz, Xavier; Gazzo, Andrea; Gelpi, Josep Ll; Lopez-Ferrando, Victor; Orozco, Modesto et al.
DOI: 10.1093/nar/gkx313

Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.

PMID: 28365877
Journal: Familial Cancer
Year: 2017
Reference: Fam Cancer. 2017 Oct;16(4):501-507. doi: 10.1007/s10689-017-9981-1.
Impact factor:
Publication type: Paper in international publication
Authors: Balaguer, Francesc; Cadinanos, Juan; Capella, Gabriel; Cuesta, Raquel; de la Cruz, Xavier; Del Valle, Jesus; Fernandez, Anna; Gonzalez-Acosta, Maribel; Iglesias, Silvia; Lazaro, Conxi et al.
DOI: 10.1007/s10689-017-9981-1

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.