Itahisa Marcelino-Rodríguez

This study expands CIRdb with whole-exome sequencing data from 920 Canary Islanders, identifying 387,555 variants, including 15.1% previously unreported and 74.4% rare.

The paper identifies rare genetic variants associated with sepsis-associated ARDS using whole-exome sequencing and network-based clustering analysis.

This study calculates polygenic risk scores for idiopathic pulmonary fibrosis (IPF) and finds they are associated with increased risk of severe COVID-19 outcomes, particularly in younger males.

This study benchmarks de novo assembly tools for human whole-genome sequencing data using hybrid long-read and short-read data, finding Flye with error-corrected reads performs best.