Lluís Quintana‐Murci

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.

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.

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 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.

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

The paper identifies dysregulated dsRNA sensing and RNA viral exposure as potential triggers of type I interferon dysregulation in juvenile dermatomyositis onset.

This study identifies ST8SIA4-mediated polysialylation as essential for CCR2-driven monocyte egress from the bone marrow, revealing a novel regulatory mechanism in immune cell trafficking.

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.

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

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.

This study examines the relationship between human genetic ancestry, Mycobacterium tuberculosis diversity, and TB disease severity in Dar es Salaam, Tanzania, finding no significant genetic influence on disease severity.

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.

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

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

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.

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.

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

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

The paper investigates monocyte subset heterogeneity and its impact on influenza virus susceptibility across populations, revealing differences in transcriptional responses and infection resistance between African and European ancestry individuals.

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.

The paper analyzes miRNA and isomiR variation in human monocytes across populations and infection, finding population differences driven by non-genetic factors and limited genetic control.

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

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

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

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

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.

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