2023
Common genetic factors among autoimmune diseases
Harroud A, Hafler D. Common genetic factors among autoimmune diseases. Science 2023, 380: 485-490. PMID: 37141355, DOI: 10.1126/science.adg2992.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMultimodal genomic dataEvolutionary originDisease geneticsPolygenic basisPrecise geneSelection pressureGenomic dataMolecular consequencesAssociation studiesGenetic studiesFunctional experimentsGenetic effectsRisk variantsCommon genetic factorsAncient populationsCurrent understandingPotential therapeutic implicationsGenetic factorsKey immune cellsGenesGeneticsWidespread sharingImmune cellsValuable insights
2022
Population genetics meets single-cell sequencing
Sumida TS, Hafler DA. Population genetics meets single-cell sequencing. Science 2022, 376: 134-135. PMID: 35389792, DOI: 10.1126/science.abq0426.Peer-Reviewed Original Research
2020
Epigenetic fine-mapping: identification of causal mechanisms for autoimmunity
Lincoln MR, Axisa PP, Hafler DA. Epigenetic fine-mapping: identification of causal mechanisms for autoimmunity. Current Opinion In Immunology 2020, 67: 50-56. PMID: 32977183, DOI: 10.1016/j.coi.2020.09.002.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMolecular mechanismsSusceptibility lociIndividual susceptibility lociFundamental genetic basisCausal molecular mechanismsPathogenic cell typesSpecific molecular mechanismsGenetic susceptibility lociEpigenetic techniquesGenetic basisGenetic lociAssociation studiesCell typesLociRecent advancesMechanismGeneticsAutoimmune diseasesSpectrum of autoimmunityCausal mechanismsEtiological mechanismsInflammatory diseasesTranslationAutoimmunity
2012
Immune-mediated disease genetics: the shared basis of pathogenesis
Cotsapas C, Hafler DA. Immune-mediated disease genetics: the shared basis of pathogenesis. Trends In Immunology 2012, 34: 22-26. PMID: 23031829, DOI: 10.1016/j.it.2012.09.001.Peer-Reviewed Original ResearchConceptsRecent genetic studiesGenomic lociDisease geneticsMolecular basisGenetic studiesMolecular causesMolecular defectsRisk variantsSpecific pathwaysBasis of pathogenesisActionable discoveriesGeneticsInflammatory diseasesOverall symptomatologyDisease heterogeneityLociVariantsDiseasePathwayPathogenesisHigh rateRational approachDiscoveryPathobiology
2010
The PhenoGenetic Project: A Living Biobank Enabling the Study of Human Genetic and Immunologic Variation
Castillo I, Lui Q, Ottoboni L, Briskin R, Alter G, Hafler D, De Jager P. The PhenoGenetic Project: A Living Biobank Enabling the Study of Human Genetic and Immunologic Variation. Clinical Immunology 2010, 135: s118-s119. DOI: 10.1016/j.clim.2010.03.355.Peer-Reviewed Original ResearchChapter 3 Uncovering the Genetic Architecture of Multiple Sclerosis
De Jager P, Hafler D. Chapter 3 Uncovering the Genetic Architecture of Multiple Sclerosis. Blue Books Of Neurology 2010, 35: 43-56. DOI: 10.1016/b978-1-4160-6068-0.00003-6.Peer-Reviewed Original ResearchGenetic architectureSusceptibility lociWhole-genome association scansCommon human diseasesMajor histocompatibility complexMultiple sclerosis geneticsCommon genetic variationAssociation scanHuman genomeGenetic variationSingle locusHuman diseasesLociFirst glimpseCurrent discoveriesHistocompatibility complexGenotyped subjectsGenetic susceptibilityGenomeRapid progressHuman leukocyte antigenGeneticsHapMapConvergence of resourcesMultiple sclerosis