Luis A. Rubio‐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.

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

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

The paper creates a variant benchmark for X and Y chromosomes using a complete assembly of HG002, highlighting challenges in variant detection in complex regions.

The paper develops a benchmark for detecting low-frequency mosaic variants in the HG002 reference material using high-coverage sequencing data and validates its utility across multiple technologies.

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.

The paper identifies four novel genetic variants associated with IPF survival, including a PCSK6 variant, and suggests PCSK6 as a prognostic biomarker and therapeutic target.

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.

The paper benchmarks five Y-chromosomal haplogroup classifiers using whole-genome and whole-exome sequencing data, finding YLeaf performs best for both and handles third-generation sequencing data effectively.

The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.

This paper creates a comprehensive benchmark for challenging medically-relevant autosomal genes, improving variant recall from 8% to 100% by addressing reference-specific false duplications.

This study benchmarks mitochondrial DNA haplogroup classifiers using whole-genome and whole-exome sequencing data, finding Haplocheck as the most accurate tool for short-read data and requiring assembly-based approaches for long-read data.