Christopher DeBoever

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

Multi-omic QTL mapping in early developmental tissues reveals phenotypic and temporal complexity of regulatory variants underlying GWAS loci

The paper identifies multi-omic QTLs in early developmental tissues and shows that GWAS loci often involve complex regulatory variants not captured by eQTLs alone.

Analysis of regulatory network modules in hundreds of human stem cell lines reveals complex epigenetic and genetic factors contribute to pluripotency state differences between subpopulations

The paper identifies regulatory network modules in human stem cells, showing epigenetic and genetic factors influence pluripotency state differences.

eQTL mapping in fetal-like pancreatic progenitor cells reveals early developmental insights into diabetes risk

The paper maps eQTLs in fetal-like pancreatic progenitor cells, identifying regulatory variants that influence diabetes risk by affecting gene expression and splicing in early development.

Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease

This study identifies causal genetic variants for cardiac traits by integrating spatiotemporal eQTL analysis with GWAS data, showing stage- and tissue-specific effects.

Deconvoluting complex correlates of COVID19 severity with local ancestry inference and viral phylodynamics: Results of a multiomic pandemic tracking strategy

The paper integrates multi-omic data to identify genetic and microbiome factors associated with severe COVID-19, independent of ancestry and social factors.

Bayesian model comparison for rare variant association studies

The paper introduces a Bayesian model comparison approach, MRP, for rare variant association studies using summary statistics, demonstrating improved power and discovery of gene-trait associations across multiple phenotypes.

Genomic properties of structural variants and short tandem repeats that impact gene expression and complex traits in humans

The paper examines how structural variants and short tandem repeats affect gene expression and complex traits, identifying high-impact variants associated with multiple genes and GWAS traits.

Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats

The paper discovers and genotypes a comprehensive set of structural variants and short tandem repeats using multiple algorithms and replicates, creating a well-characterized map of these variants.

Pervasive additive and non-additive effects within the HLA region contribute to disease risk in the UK Biobank

The paper analyzes HLA allele associations with 677 phenotypes in the UK Biobank, identifying 88 replicated and 90 novel associations, and uncovering non-additive and homozygous effects on disease risk.

Assessing digital phenotyping to enhance genetic studies of human diseases

This study evaluates if GWAS using digital phenotyping data from UK Biobank improves genetic association detection for diseases.

Medical relevance of common protein-altering variants in GPCR genes across 337,205 individuals in the UK Biobank

The paper identifies 138 associations between common protein-altering variants in GPCR genes and various phenotypes using UK Biobank data.

Allele-specific NKX2-5 binding underlies multiple genetic associations with human EKG traits

The paper identifies allele-specific NKX2-5 binding variants associated with EKG traits by integrating iPSC-CM data and GWAS, showing their role in heart rate loci and cardiac enhancer activity.

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight novel adipocyte biology

The paper uses DeGAs to identify genetic components across 2,138 phenotypes in the UK Biobank, revealing novel adipocyte biology through variant and gene contributions to obesity-related traits.

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

Global Biobank Engine enables browsing of genotype-phenotype relationships using biobank summary statistics from large cohorts like UK Biobank.

Medical relevance of protein-truncating variants across 337,208 individuals in the UK Biobank study

The paper assesses the medical relevance of protein-truncating variants across 337,208 UK Biobank individuals, identifying 27 associations with 135 phenotypes and highlighting pleiotropic effects.