Étienne Patin

A 4,000-year genomic history of Bantu speakers from the Congo rainforest

This study uses genomic data from ancient and present-day individuals to trace the 4,000-year demographic history of Bantu speakers in the Congo rainforest, revealing early dispersals and a population crisis.

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

Identification and Functional Characterization of Regulatory Variants in DPP9 Associated with COVID-19 Severity

The paper identifies and functionally characterizes regulatory variants in DPP9 associated with severe COVID-19 by analyzing genetic risk factors and their impact on gene expression and immune cell function.

eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases

eQTM Atlas, an R Shiny resource, curates over 11 million DNA methylation-gene expression associations from eight cohorts and 11 tissues to annotate EWAS CpGs beyond proximity.

Immune context unmasks regulatory effects of Neanderthal and Denisovan introgression

The paper identifies regulatory effects of Neanderthal and Denisovan introgression in immune-related genes using a massively parallel reporter assay across different cell types.

Deep learning analyses of DNA sequences resolve the retention of the Duffy-null resistance to Plasmodium vivax malaria in Africa

The paper uses deep learning to analyze DNA sequences and shows that the Duffy-null allele, protective against P. vivax, was retained in Africa due to selection pressures, with evidence of its spread linked to the Bantu expansion.

Nested admixture during and after the Trans-Atlantic Slave Trade on the island of Sao Tome

This study reconstructs the complex admixture history of Sao Tome's population, revealing nested admixture events and shared ancestries between African and European groups.

Genetic Basis, Quantitative Nature, and Functional Relevance of Evolutionarily Conserved DNA Methylation

The paper identifies evolutionarily conserved DNA methylation sites in great apes and shows their association with cancer but not other diseases.

Common DNA sequence variation influences epigenetic aging in African populations

The paper develops an epigenetic age predictor that accounts for DNA sequence variation in African populations, finding that genetic variants can influence epigenetic age and longevity.

A multivariate outcome test of covariance

The paper introduces MANOCCA, a method to test the effect of predictors on the covariance matrix of multivariate outcomes, showing it outperforms existing methods in simulations and identifies significant associations in real data.

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

This study uses ancient genomics to show that genetic adaptation to pathogens in post-Neolithic Europe increased inflammatory disease risk through antagonistic pleiotropy.

Environmental and genetic drivers of population differences in SARS-CoV-2 immune responses

The paper identifies environmental and genetic factors influencing population differences in SARS-CoV-2 immune responses using single-cell RNA-sequencing data.

The Immune Factors Driving DNA Methylation Variation in Human Blood

This study identifies factors influencing DNA methylation variation in human blood, showing that cytomegalovirus infection and aging drive methylation changes, with cellular composition and DNA sequence as key predictors.

The genomic landscape of contemporary western Remote Oceanians

This study analyzes genome-wide data from 1,433 ni-Vanuatu individuals to trace their genetic ancestry and admixture history, revealing synchronous admixture events and social assortative mating patterns.

Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

The paper identifies novel genetic and non-genetic factors associated with plasma protein levels in healthy donors, highlighting their impact on immune response variability.

The genomic signatures of natural selection in admixed human populations

This study identifies genomic signatures of adaptive admixture in 15 admixed populations, finding evidence of beneficial mutations acquired through population mixing.

Negative selection on human genes causing severe inborn errors depends on disease outcome and both the mode and mechanism of inheritance

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

The paper identifies 166 dispensable human genes with common loss-of-function variants that show relaxed selective constraints and some evidence of positive selection.

The genomic impact of European colonization of the Americas

This study analyzes the genetic impact of European colonization on the Americas using genome-wide data from 12,000 individuals, revealing complex contributions from European, African, and other sources.

A Comprehensive Assessment of Demographic, Environmental and Host Genetic Associations with Gut Microbiome Diversity in Healthy Individuals

This study identifies non-genetic factors associated with gut microbiome diversity in a cohort of healthy individuals, finding no genome-wide significant genetic associations.

Exploring the Genetic Basis of Human Population Differences in DNA Methylation and their Causal Impact on Immune Gene Regulation

The paper identifies ancestry-related DNA methylation differences and their causal impact on immune gene regulation using monocytes and Bayesian analysis.

Polygenic adaptation and convergent evolution across both growth and cardiac genetic pathways in African and Asian rainforest hunter-gatherers

The paper identifies convergent positive selection in growth and cardiac pathways between African and Asian rainforest hunter-gatherers, suggesting convergent adaptation to rainforest environments.

Accurate prediction of cell composition, age, smoking consumption and infection serostatus based on blood DNA methylation profiles

The paper develops a method to predict blood cell composition, age, smoking, and infection status using DNA methylation profiles, achieving high accuracy with fewer methylation sites than existing methods.

Genetic factors and age are the strongest predictors of humoral immune responses to common pathogens and vaccines

This study identifies age, sex, and genetic variants as key predictors of variability in humoral immune responses to pathogens and vaccines.