Carlos Flores

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.

This study identifies three novel genetic signals associated with idiopathic pulmonary fibrosis using GWAS and clinically-curated datasets, highlighting potential drug targets like MUC1 and NTN4.

This study evaluates the genetic risk variants for idiopathic pulmonary fibrosis in non-European populations, finding partial replication and ancestry-specific effects, with rs35705950 as the most consistent signal.

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

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

This study performs GWAS of IPF using dominant and recessive models, identifying five new genome-wide significant signals and genes, including PMF1 and EPN3, and observing increased PMF1 expression in IPF patients.

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 investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

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.

This study identifies three genetic variants with sex-specific effects on IPF susceptibility but finds no significant difference in predictive accuracy of polygenic risk scores between males and females.

This study investigates the association between HLA genetic variants and IPF risk using a meta-analysis of seven case-control studies, finding no consistent HLA region associations.

The paper models the demographic history of North African genomes, finding a recent soft split divergence between Arab and Amazigh populations and a back-to-Africa origin.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

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.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

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.

This study performs a genome-wide meta-analysis across five IPF cohorts, identifying five novel genetic loci associated with idiopathic pulmonary fibrosis.

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.

NanoCLUST improves species-level bacterial identification and abundance estimation using 16S rRNA nanopore sequencing data compared to existing methods.

This study identifies three new genetic loci associated with idiopathic pulmonary fibrosis and confirms 11 previously reported ones, highlighting mTOR signaling and mitotic spindle-assembly genes in disease susceptibility.

The paper analyzes ancient mitogenomes from the Canary Islands to trace the origin and migration patterns of indigenous populations, identifying new lineages and supporting a model of two distinct migrations.

The paper uses shallow MinION sequencing combined with Illumina short-read data to improve genome assembly of Streptococcus agalactiae.