Mar Gonzàlez-Porta

The paper validates a pharmacogenomics reporting workflow using the Illumina Global Screening Array for 25 genes, showing high accuracy and reproducibility across multiple reference datasets.

The paper analyzes CYP2D6 variation in a multi-ethnic Asian cohort, identifying population-specific star alleles and actionable variants with implications for pharmacogenomics.

Bgee provides an integrated expression atlas and comparative transcriptomics resource for multiple animal species using curated healthy wild-type expression data.

The paper develops standardized tools and best practices for benchmarking germline small variant calls in human genomes using truth sets and performance metrics.

SwitchSeq identifies and visualizes extreme splicing changes from RNA-seq data, aiding in the interpretation of differential splicing events.