Almudena Corrales

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders

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.

Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome

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

Protein-based genomic analysis for the identification of risk loci associated with acute respiratory distress syndrome

The paper identifies risk loci for acute respiratory distress syndrome (ARDS) by analyzing protein quantitative trait loci (pQTLs) from GWAS of sepsis-related biomarkers.

Genome-wide association study of susceptibility to acute respiratory distress syndrome

This study identifies a genome-wide significant variant associated with sepsis-associated ARDS risk, linking cholesterol metabolism to ARDS susceptibility.

Genetic regulation of the vascular endothelial growth factor receptor 1 during sepsis and association with ARDS susceptibility

This study identifies pQTLs of sVEGFR1 levels during sepsis and links them to ARDS susceptibility and mortality using GWAS, colocalisation, and Mendelian randomisation.

Benchmarking of bioinformatics tools for the hybrid de novo assembly of human whole-genome sequencing data

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.

A Genome-Wide Association Study of Survival in Patients with Sepsis

This paper conducts a genome-wide association study (GWAS) to identify genetic variants associated with 28-day survival in sepsis patients, finding three novel variants linked to reduced survival.