Vanessa Aguiar‐Pulido

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

RExPRT predicts pathogenicity of tandem repeat expansions with high precision, identifying ~30,000 likely pathogenic TRs in the reference genome.

The paper identifies MIG-encoded proteins as potential pan-viral drug targets, showing that repurposed anti-cancer drugs target these proteins.

The paper uses systems biology analysis of whole-genome sequences from 298 SB case-control pairs to identify key pathways and genes associated with spina bifida risk.

The paper uses bioinformatic analyses of RNA sequencing data to identify host and viral factors involved in SARS-CoV-2 pathogenesis, including differentially expressed genes and viral sequence variants linked to disease severity.

The paper analyzes single-cell sperm RNA-seq data from fathers of autistic and healthy children to identify mutation clusters and expression differences associated with ASD risk.