Pablo Riesgo-Ferreiro

This paper introduces splice2neo, a tool to identify tumor-specific splice junctions from somatic mutations, which can generate neoantigen candidates for immunotherapy.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper analyzes MHC binding and CD8+ T-cell immune escape of SARS-CoV-2 Omicron and Delta variants by comparing epitope binding affinities and identifying mutations affecting immune recognition.

The paper analyzes SARS-CoV-2 genome data to show increasing mutation rates in spike protein variants over time and highlights the need for continuous viral surveillance.

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.