Eric B. Fauman

Single-nucleus multi-omics reveals reversible molecular signatures in skeletal muscle of patients with heart failure with preserved ejection fraction

The paper uses single-nucleus multi-omics to study skeletal muscle changes in HFpEF patients and shows some molecular changes are reversible with lifestyle interventions.

MetaboXcan: A multiomic framework linking genetically predicted metabolites, gene expression, and complex traits

MetaboXcan predicts plasma metabolites from genetic data and associates them with complex traits, identifying disease risk genes and metabolites in chronic kidney disease.

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications

This paper analyzes 100,526 GWAS to identify pleiotropic genes and their therapeutic implications, finding that highly pleiotropic genes are associated with safety liabilities and that combining PAV support with intermediate pleiotropy improves therapeutic success.

Genetic demultiplexing and transcript start site identification from nanopore sequencing of 10x Genomics multiome libraries

This study demonstrates nanopore sequencing of 10x Genomics multiome libraries to capture full-length transcripts and identify TSS, showing concordance with short-read methods despite higher error rates.

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.

Mendelian randomisation with proxy exposures: challenges and opportunities

The paper explores challenges in Mendelian randomisation with proxy exposures, demonstrating how variant effects on downstream metabolites can infer causal roles in biological processes.

Probabilistic Fine-mapping of Putative Causal Genes

This paper introduces INTERFACE, a probabilistic fine-mapping method that improves the identification of causal genes by integrating colocalization and transcriptome-wide association evidence.

Integrative analysis of the genome, transcriptome, and proteome identifies causal mechanisms of complex traits.

The paper introduces Multi-INTACT, a method that integrates transcriptome-wide association studies with protein QTL data to identify causal genes for metabolites, finding that both gene products are relevant for most gene nominations.

Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants

The paper maps genetic associations with plasma proteins in 54,306 UK Biobank participants, identifying 10,248 new protein quantitative trait loci (pQTLs) and expanding the genetic architecture of the plasma proteome.

DrFARM: Identification and inference for pleiotropic gene in GWAS

DrFARM identifies pleiotropic gene variants by jointly analyzing genetic data and controlling false discovery rate, finding 288 new metabolite associations in a metabolic study.

Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation

The paper performs metabolite GWAS on UK Biobank data to investigate pleiotropy and genetic correlation, finding pathway-relevant genes and contrasting variant effects.

An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs

The paper derives an empirical distance cutoff to distinguish cis and trans protein QTLs using a large-scale pQTL study and applies it to molecular GWAS traits.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

An Effector Index to Predict Causal Genes at GWAS Loci

The paper introduces the Effector Index, an algorithm to predict causal genes at GWAS loci using genomic features, achieving 85% AUC in type 2 diabetes validation.

Genome-wide analysis of blood lipid metabolites in over 5,000 South Asians reveals biological insights at cardiometabolic disease loci

The paper identifies genetic associations between blood lipid metabolites and cardiometabolic disease loci in South Asian populations using lipidomics data from two studies.

Insights from complex trait fine-mapping across diverse populations

Fine-mapping 148 complex traits in three biobanks with combined n = 811,261 yields 4,518 causal variant-trait pairs, 285 of them repeating in more than one population.

Open Targets Genetics: An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

The paper presents an open resource for fine-mapping and gene prioritization at GWAS loci, identifying causal variants and genes and improving drug target identification.

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.

Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes

This study identifies genetic associations with metabolite levels across multiple cohorts and links these variants to clinical outcomes like type 2 diabetes and macular telangiectasia type 2.

ProGeM: A framework for the prioritisation of candidate causal genes at molecular quantitative trait loci

ProGeM prioritizes candidate causal genes at molecular QTLs by integrating biological and genome annotations, achieving high accuracy in identifying true positives.