Adrián Muñoz‐Barrera

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.

Small variant benchmark from a complete assembly of X and Y chromosomes

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.

A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.

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.

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.

PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

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.

A benchmarking of human Y-chromosomal haplogroup classifiers from whole-genome and whole-exome sequence data

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.

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

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.

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

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.

A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data

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.