2014
SP0104 The Molecular Basis of Autoimmune Disease
Hafler D. SP0104 The Molecular Basis of Autoimmune Disease. Annals Of The Rheumatic Diseases 2014, 73: 27. DOI: 10.1136/annrheumdis-2014-eular.6254.Peer-Reviewed Original ResearchGenome-wide association studiesNon-coding regionsConsensus transcription factorNumerous genetic associationsDistinct cell typesDifferent autoimmune diseasesAutoimmune diseasesChromatin mapsTh17 cellsGWAS hitsHigh NaCl levelsTranscription factorsDNA sequencesMolecular basisGenetic dataCausal mutationsDisease riskAssociation studiesMechanistic basisCommon SNPsNucleotide variantsAP-1Risk SNPsCell typesSpecific disruption
2013
Models of Somatic Hypermutation Targeting and Substitution Based on Synonymous Mutations from High-Throughput Immunoglobulin Sequencing Data
Yaari G, Heiden J, Uduman M, Gadala-Maria D, Gupta N, Stern JN, O’Connor K, Hafler DA, Laserson U, Vigneault F, Kleinstein SH. Models of Somatic Hypermutation Targeting and Substitution Based on Synonymous Mutations from High-Throughput Immunoglobulin Sequencing Data. Frontiers In Immunology 2013, 4: 358. PMID: 24298272, PMCID: PMC3828525, DOI: 10.3389/fimmu.2013.00358.Peer-Reviewed Original ResearchAccurate background modelSynonymous mutationsNon-coding regionsParticular codon usageNon-functional sequencesComputational analysis methodsObserved mutation patternExisting modelsBackground modelInfluence of selectionCodon usageSHM targetingBase compositionImproved modelSequencing dataNucleotide substitutionsAnalysis methodStatistical analysisFunctional sequencesMutation targetingB-cell cancersModelSomatic hypermutation patternsMutationsHypermutation patterns