Jorge García–Martínez

PULPO is a pipeline that processes Optical Genome Mapping data to extract mutational signatures, improving oncogenomic analysis accessibility.

CROCKETA automates multi-omic analysis of scRNA-seq and immune repertoire data, integrating quality control, clustering, and differential expression for human and mouse datasets.

This study evaluates using locus variability, measured by Shannon entropy from variant allele frequencies, to predict pathogenic SNVs in mitochondrial and splice-site regions, showing strong performance compared to existing tools.

The paper introduces two variant pathogenicity prediction models, VSRFM and VSRFM-s, which incorporate splicing information and allele frequency to improve prediction accuracy.