Throughout 2022, we have dedicated our efforts towards two key aspects of our work. Firstly, we have delved deeper into our own research on the molecular foundation of Hereditary Cancer. Specifically, we have developed a new Artificial Intelligence (AI) methodology to aid in identifying the variants that lead to breast cancer linked to the ATM protein. Moreover, we have complemented this methodology with graphic tools that enable clinical users to calibrate the AI predictions. Concurrently, we have worked towards elevating the international profile of our new group. To this end, we have concluded two new projects with researchers from the Children\’s Hospital of Philadelphia related to neurodegenerative syndromes, in collaboration with the groups of E. Bhoj and N. Akizu. Furthermore, we have accepted an invitation to collaborate with researchers from the Tel Aviv Medical School (K. Abraham) and the Technion Institute of Technology (F. Glasser) to understand hereditary deafness.

Group Leader
Fco. Xavier De la Cruz Montserrat

Researchers
Natàlia Padilla

PhD Students
Selen Özkan

1

PUBLICATIONS

100.0%

%Q1

5

IMPACT FACTOR

5.34

AVERAGE IMPACT FACTOR

SELECTED ARTICLES

Galano-Frutos JJ, Garcia-Cebollada H, Lopez A, Rosell M, de la Cruz X, Fernandez-Recio J, Sancho J
PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context
J Mol Diagn. 2022 24:406-425.
DOI: doi: 10.1016/j.jmoldx.2022.01.005
IF: 5.34

Advanced use of Artificial Intelligence in Genomic Medicine: Integrating performance and interpretability in a new generation of protein variant annotation tools (IAMEDGE)
Principal Investigator: Francisco Javier de la Cruz Montserrat
Agency: Ministerio de Ciencia e Innovación
Funding: 219,650€
Period: 12/2022 - 11/2024