Jose Miguel Lorenzo-Salazar

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 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.

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 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 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 identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

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 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 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.

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.