Raúl Nicolás Mateos

CrosSplice identifies rare splice-site creating variants using cross-tissue transcriptome data, discovering clinically relevant variants missed by conventional methods.

This paper uses rare k-mers to identify centromere haplogroups in human populations and cancer translocations, revealing structural diversity and translocation mechanisms.

This study develops a computational workflow for target adaptive sampling long-read sequencing and applies it to hereditary cancer genomes to identify genetic variants and epigenetic changes.

The paper identifies intron retention associated variants using transcriptome data alone, finding 27,937 variants and 3,077 putative disease-associated ones.