Edward J. Hollox

Phenome-wide association of multiallelic copy number variation in 422,170 UK Biobank individuals reveals novel genetic loci associated with disease

This paper identifies novel associations between multiallelic copy number variations and disease traits using UK Biobank data, highlighting potential causal variants and mechanisms.

The single nucleotide polymorphism rs1053230 modulates kynurenine 3-monooxygenase stability and is associated with cognitive and mood phenotypes

This study investigates the functional impact of SNPs rs1053230 and rs2275163 on KMO protein stability and interactions, linking rs1053230 to depressive mood symptoms.

Genome-wide analysis of tandem repeat variation identifies SLC15A4 as a susceptibility gene for idiopathic pulmonary fibrosis

This study identifies SLC15A4 as a susceptibility gene for IPF through genome-wide analysis of tandem repeat variation, showing its role in gene expression and disease risk.

β-defensin gene copy number variation in cattle

This study identifies extensive β-defensin gene copy number variation in cattle, particularly DEFB103, and links it to fertility-related traits.

The role of β-defensin 103 (DEFB103) copy number variation in bull fertility

The paper associates DEFB103 copy number variation with sperm motility, oviduct epithelium binding, and uterine gene expression, potentially affecting fertility outcomes in cattle.

Genomics of chronic cough unravels neurological pathways

This study identifies seven novel genetic loci associated with chronic dry cough and ACEi-induced cough, implicating neurological genes and highlighting potential therapeutic targets.

A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples

This study compares STR genotyping software using clinical and population-based human genome data, finding that some tools perform better for common STRs while others excel at detecting expanded STRs.

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

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.

Gene fusions during the early evolution of mesothelioma correlate with impaired DNA repair and Hippo pathways

The paper identifies early gene fusions in mesothelioma linked to DNA repair and Hippo pathway dysfunction through whole exome sequencing of patient samples.

DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies.

DeepPheWAS creates composite phenotypes and performs association analysis for phenome-wide studies using genetic inputs and various models.

Genome-wide association study of ACE inhibitor-induced cough implicates neuropeptides and shows genetic overlap with chronic dry cough

This study identifies genetic associations with ACE inhibitor-induced cough and finds shared genetic factors with chronic dry cough.

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

The paper identifies two independent asthma-associated loci in the HLA region using exome-wide CNV analysis in UK Biobank, highlighting challenges with CNV detection in complex genomic regions.

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

Maintenance of copy number variation at the human salivary agglutinin gene (DMBT1) by balancing selection driven by host-microbe interactions

The paper identifies balancing selection at the DMBT1 gene driven by host-microbe interactions through expression analysis and long-range transcript sequencing.

Extensive variation in the mouse intelectin gene family: recent duplications, deletions and inactivating variants result in diversity in laboratory strains

The paper identifies extensive variation in mouse intelectin genes, including duplications, deletions, and pseudogenes, revealing evolutionary diversity across strains.

Genotyping complex structural variation at the malaria-associated human glycophorin locus using a PCR-based strategy

The paper develops a PCR-based strategy to genotype structural variation at the glycophorin locus, validating it on public data and applying it to a longitudinal cohort to study malaria association.

Structural variation of the malaria-associated human glycophorin A-B-E region

The paper analyzes structural variation in the glycophorin gene cluster across 6466 genomes, identifies 15 known and 9 new variants, and links structural variants to recombination hotspots.

The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels

The paper identifies DUP4, a structural variant associated with reduced malaria risk and higher hemoglobin levels in a Tanzanian population.

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease

This study develops assays to genotype CR1-B allele and confirms its association with late-onset Alzheimer’s disease risk.

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function

The paper investigates the CCL3L1-CCR5 axis in lung function using genetic data, finding no association between CCL3L1 copy number or CCR5del32 genotype and lung function.