Marie-Julie Favé

Trans-eQTLs reveal the architecture of human gene regulatory networks

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

Geography, Ancestry, Age and Sex Shape Somatic Autosomal Mosaic Chromosomal Alterations in Blood

The paper examines how geography, ancestry, age, and sex influence the prevalence of somatic autosomal mosaic chromosomal alterations in blood across diverse populations.

Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

OTTERS: A powerful TWAS framework leveraging summary-level reference data

OTTERS is a TWAS framework that uses summary-level eQTL reference data to estimate eQTL weights and perform omnibus TWAS, showing improved power and applicability.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

The paper uses blood eQTL meta-analysis to explore the polygenic architecture of complex traits, finding that trans-eQTLs are more informative for identifying causal genes than cis-eQTLs.

Polygenic risk scores predict diabetic complications and their response to therapy

This paper develops a polygenic risk score model to predict diabetic complications and their response to therapy using genome-wide association study data.

Mendelian Randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

The paper reports the sequencing and manual annotation of the Gerris buenoi genome, identifying gene expansions linked to adaptations for aquatic life.

Novel susceptibility loci and genetic regulation mechanisms for type 2 diabetes

This study identifies 139 common and 4 rare genetic variants associated with type 2 diabetes through GWAS and integrates gene expression and epigenomic data to highlight potential functional genes and regulatory mechanisms.

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

The paper identifies gene targets for brain-related traits using transcriptomic and methylomic data from blood, finding strong correlations between genetic effects in brain and blood tissues.

Genomic and Environmental Contributions to Chronic Diseases in Urban Populations

The paper investigates how environmental factors, particularly air pollution, interact with genetic variation to influence gene expression and chronic disease traits in an urban population.

Integrating ecological genomics and eco-evo-devo reveals multiple adaptive peaks in ant populations of the Arizona Sky Islands

The paper integrates ecological genomics and evolutionary developmental biology to study adaptive peaks in ant populations across Arizona Sky Islands, finding temperature-associated loci under positive selection and gene flow restricted by temperature adaptation.

Impact of the X chromosome and sex on regulatory variation

This study examines how the X chromosome and sex influence gene regulation and disease by analyzing gene expression and regulatory variation in whole blood from 922 individuals.