Nina Gonzaludo

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data

StarPhase diplotypes 21 pharmacogenes using long-read sequencing with high accuracy, updating 26.2% of existing diplotypes and highlighting gaps in pharmacogenomic databases.

Aldy 4: An efficient genotyper and star-allele caller for pharmacogenomics

Aldy 4 is a pharmacogenomics genotyper and star-allele caller that improves accuracy across sequencing technologies through combinatorial optimization and novel models.

Design and performance of a long-read sequencing panel for pharmacogenomics

The paper presents a long-read sequencing panel for pharmacogenomics, achieving high accuracy and phasing for SNVs and clinical star(*)-alleles.

Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data

Cyrius accurately genotypes CYP2D6 using whole-genome sequencing data, outperforming existing methods and improving accuracy to 99.3%.