RESEARCH GROUPS

Clinical and Translational Bioinformatics

Group page

Number of publications

0.00

% Q1

0.00

% D1

50.00

% Leadership

100.00

% Female Leadership

0.72

CROWN (2021-2025)

0.00

HCP10% (2021-2025)

100.00

% Open access

50.00

% International Collaboration

Highly cited papers / HCP 1% (2021-2025)

Publications in high-IF journals with high Altmetric scores

Number of Ongoing Projectes (total)

International ongoing projects

Number of New projects (total)

International new projects

Number of Active clinical Trials

Number of New Clinical Trials

Number of Theses

In 2025, our efforts to achieve a quantitative understanding of the basis of monogenic diseases crystallized into an AI model that has received clear recognition from the international community. This model, in its final version for predicting the functional impact of missense variants, was validated with excellent results in the CAGI7 challenge: ranking 1st in 2 out of 4 challenges and being the only group to achieve this distinction. In recognition of these results, we were invited to present them orally at the CAGI 7 conference, held from December 6 to 8, 2025, in Boston. In parallel, we developed CRONDEX, an application for the comparative analysis of genes causing neurodevelopmental disorders, and actively contributed to promoting AI within the institute.

CORE/MISSIONS

AI, Data, Imaging & Digital Health

PROGRAMS

TEAM

Group Leader

Xavier de la Cruz Montserrat

Researchers

Selen Özkan

PhD Students

Javier Guerrero, Shaopei Ye

Lab Technicians

Aitana Díaz

SELECTED PUBLICATIONS

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
Human Genetics 144(2–3):295–308 (2025)
DOI: 10.1007/s00439-025-02731-3
IF: 3.6

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
Human Genetics 144(2–3):191–208 (2025)
DOI: 10.1007/s00439-024-02692-z
IF: 3.6

SELECTED PROJECTS

Advancing towards precision diagnostics using a mechanistic understanding of disease processes: from variant interpretation to single-cell profiling
Principal Investigator: Xavier de la Cruz Montserrat
Agency: Ministerio de Ciencia e Innovación (MICINN)
Funding: 262,500 €
Period: 01/09/2023 – 31/08/2026

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 Innovación (MICINN)
Funding: 219,650 €
Period: 01/12/2022 – 30/09/2025

PATENTS

DISSEMINATION ACTIVITIES

Participation in the international contest CAGI 7
Place: Boston (USA)
Date: 6-8 december
Brief: Our group participated in the CAGI7 international challenge, achieving outstanding performance by ranking 1st in 2 out of 4 challenges. These results led to an invited oral presentation at the CAGI 7 conference (Boston, December 2025).

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