Clinical and Translational Bioinformatics

Publications

100.00

%Q1

Number of citations

100.00

% Open Access Publications

Ongoing Projects

Number of Presented Theses

Number of Active Clinical Trials

In 2024, we advanced research on pathogenicity prediction and the molecular basis of neurodevelopmental disorders. A key highlight was a one-month stay of Prof. Xavier de la Cruz at the University of Bologna, that initiated a collaboration with Dr. E. Capriotti to integrate his AI expertise into our tools. We also strengthened ties with Prof. K. Avraham (Tel Aviv Univ.) on hearing loss-associated variants, and Dr. L. Haracska (HCEMM, Hungary) on cancer-related variants. Students from both groups joined us for training, fostering scientific exchange. We are also finalizing a web portal to support NDD experts, offering integrated phenotype-to-genotype data. These efforts aim at advancing accurate, interpretable AI-driven diagnostics.

eCORE

Cancer
Personalized Medicine, Innovative Diagnostics, Molecular Imaging & Digital Health

Team

Group Leader
Fco. Xavier De la Cruz Montserrat

Researchers
Natàlia Padilla Sirera

PhD Students
Selen Özkan, Shaopei Ye

Selected Publications

Aguirre S, Pappa S, Serna-Pujol N, Padilla N, Iacobucci S, Nacht AS, Vicent GP, Jordan A, de la Cruz X, Martinez-Balbas MA
PHF2-mediated H3K9me balance orchestrates heterochromatin stability and neural progenitor proliferation
EMBO Rep 2024 25: 3486 - 3505
DOI: 10.1038/s44319-024-00178-7
IF: 6.5

Ozkan S, Padilla N, de la Cruz X
QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.
Hum Genet. Epub 2024 Jul 24.
DOI: 10.1007/s00439-024-02692-z
IF: 3.8

Jain S, Trinidad M, Nguyen TB, Jones K, Neto SD, Ge F, Glagovsky A, Jones C, Moran G, Wang B, Rahimi K, Calici SZ, Cedillo LR, Berardelli S, Ozden B, Chen K, Katsonis P, Williams A, Lichtarge O, Rana S, Pradhan S, Srinivasan R, Sajeed R, Joshi D, Faraggi E, Jernigan R, Kloczkowski A, Xu J, Song Z, Ozkan S, Padilla N, de la Cruz X, Acuna-Hidalgo R, Grafmuller A, Barron LTJ, Manfredi M, Savojardo C, Babbi G, Martelli PL, Casadio R, Sun Y, Zhu S, Shen Y, Pucci F, Rooman M, Cia G, Raimondi D, Hermans P, Kwee S, Chen E, Astore C, Kamandula A, Pejaver V, Ramola R, Velyunskiy M, Zeiberg D, Mishra R, Sterling T, Goldstein JL, Lugo-Martinez J, Kazi S, Li S, Long K, Brenner SE, Bakolitsa C, Radivojac P, Suhr D, Suhr T, Clark WT
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
bioRxiv 2024 Jun 17:2024.05.16.594558
DOI: 10.1101/2024.05.16.594558
IF: -

Selected Projects

Avanzando hacia el diagnóstico de precisión a través de la comprensión mecanística de las patologías: de la interpretación de variantes a la identificación del perfil celular
Principal Investigator: Xavier de la Cruz Montserrat
Agency: Ministerio de Ciencia e Innovación
Funding: 262,500 €
Period: 2023-2026

Advanced use of Artificial Intelligence in Genomic Medicine: Integrating performance and interpretability in a new generation of protein variant annotation tools
Principal Investigator: Xavier de la Cruz Montserrat
Agency: Ministerio de Ciencia e Investigación
Funding: 219,650 €
Period: 2022-2025

Selected Dissemination Activities

Conference - Artificial Intelligence at the Crossroads of Interdisciplinary Science
Place: BIFI - Zaragoza
Date: 18/01/2024
Brief: Xavier de la Cruz presented to a broad professional audience the advanced applications of AI in our group to solve the problem of pathogenicity prediction

Talk - Precision Medicine and Artificial Intelligence: Collaborative Advances in 21st-Century Healthcare
Place: Palazzo Marchesini, Bologna, Italy
Date: 01/01/1970
Brief: A presentation open to the public where the speaker, Xavier de la Cruz, explained how AI innovations, even without a complete solution, can lead to beneficial outcomes for patients and their families, thereby highlighting the importance of incremental progress in precision medicine.
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