Adrián Cortés

GWAS of Extended Prescription Analgesic Use Identifies Novel Genetic Loci in Chronic Pain

This study uses prescription analgesic use data to identify 140 genetic associations with chronic pain, including 78 novel loci, and suggests new biological mechanisms.

Evaluating transportability of in-vitro cellular models to in-vivo human phenotypes using gene perturbation data

The paper evaluates the transportability of in-vitro gene perturbation models to in-vivo human phenotypes using CRISPR data and UK Biobank, finding some models are predictive while others are not.

The genetic architecture of gene expression in individuals of African and European ancestry

This study compares eQTL discovery in African and European ancestry cohorts, finding more eQTLs in African samples and improved GWAS variant-to-gene mapping using African eQTLs.

Small-cohort GWAS discovery with AI over massive functional genomics knowledge graph

KGWAS improves GWAS power in small cohorts by integrating a functional knowledge graph, discovering more associations for rare diseases.

Population scale whole genome sequencing provides novel insights into cardiometabolic health

This study uses population-scale whole genome sequencing to identify novel rare protein-coding variants associated with cardiometabolic traits, revealing new biological mechanisms and gene functions.

Whole-genome sequencing of half-a-million UK Biobank participants

Whole-genome sequencing of 490,640 UK Biobank participants calls SNPs, insertions/deletions, and structural variants and maps binary and quantitative phenotype associations across five ancestry groups.

Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals

CoPheScan: phenome-wide association studies accounting for linkage disequilibrium

CoPheScan improves PheWAS by accounting for linkage disequilibrium, identifying causal associations and reducing false positives in genetic variant analyses.

Mapping the functional impact of non-coding regulatory elements in primary T cells through single-cell CRISPR screens

The paper develops a CRISPRi-based single-cell screening approach to map non-coding regulatory elements to genes in primary human CD4+ T cells and demonstrates its utility for GWAS effector gene identification.

A RUNX3 enhancer polymorphism associated with ankylosing spondylitis influences recruitment of Interferon Regulatory Factor 5 and factors of the Nucleosome Remodelling Deacetylase Complex in CD8+ T-cells

The paper investigates how a polymorphism in a RUNX3 enhancer affects TF binding in CD8+ T-cells, linking it to ankylosing spondylitis risk.

Systematic classification of shared components of genetic risk for common human diseases

This study systematically classifies shared genetic risk components across common human diseases using UK Biobank data, revealing molecular connectivity with clinical implications.

Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank

This paper develops a Bayesian framework to analyze genetic associations with healthcare phenotypes in the UK Biobank, identifying over 2,000 diagnostic term associations and novel immune-mediated disease links.

Genome-wide genetic data on ~500,000 UK Biobank participants

Quality-controlled genotypes for 488,377 UK Biobank participants at 805,426 markers, imputed to ~96 million variants, plus ancestry PCs, kinship (30.3% have close relatives enrolled) and HLA calls.