2024
Genome-Wide Association Study Identifies Novel Genetic Variants Associated with Avascular Necrosis in Sickle Cell Disease
Sowa A, Hu Y, Gladwin M, Gordeuk V, Nouraie S, Zhang Y, Pashankar F, Krishnamurti L, Gruen J. Genome-Wide Association Study Identifies Novel Genetic Variants Associated with Avascular Necrosis in Sickle Cell Disease. Blood 2024, 144: 5297-5297. DOI: 10.1182/blood-2024-207552.Peer-Reviewed Original ResearchGenome-wide association studiesChromosome 1Enhancer regionGenome-wide significance thresholdNon-coding RNA genesLong non-coding RNA genesGenome-wide significanceGenotype call rateHardy-Weinberg equilibriumSickle cell diseaseRNA genesLinkage disequilibriumPopulation stratificationAssociation studiesDiagnosis of sickle cell diseaseRegulatory elementsAvascular necrosisCohort of individualsGene studiesAllele frequenciesMultivariate logistic regression analysisLogistic regression analysisSNPsGenetic associationCall rateGenome-Wide Association Study of Chronic Pain in Sickle Cell Disease
Sowa A, Hu Y, Gladwin M, Gordeuk V, Nouraie S, Zhang Y, Pashankar F, Krishnamurti L, Gruen J. Genome-Wide Association Study of Chronic Pain in Sickle Cell Disease. Blood 2024, 144: 5298. DOI: 10.1182/blood-2024-208093.Peer-Reviewed Original ResearchGenome-wide association studiesChronic painSickle cell diseaseGenome-wide association study studiesCHD2 geneGenome-wide significance thresholdAssociated with cognitive functionGenome-wide significancePatient-reported painStudy of chronic painModify chromatin structureFamily of genesSubtypes of sickle cell diseaseProportional odds logistic regressionHardy-Weinberg equilibriumChronic pain levelsCohort of individualsCell diseaseWell-phenotyped cohortAssociation of genetic polymorphismsEpisodes of acute painSickle cell disease patientsPopulation stratificationAtypical absence seizuresChromatin structureSemi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies
Shyr D, Dey R, Li X, Zhou H, Boerwinkle E, Buyske S, Daly M, Gibbs R, Hall I, Matise T, Reeves C, Stitziel N, Zody M, Neale B, Lin X. Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. American Journal Of Human Genetics 2024, 111: 2129-2138. PMID: 39270648, PMCID: PMC11480788, DOI: 10.1016/j.ajhg.2024.08.018.Peer-Reviewed Original ResearchHardy-Weinberg equilibriumWhole-genome sequencing studiesWhole-genome sequencingHomogeneous ancestryWGS studiesDownstream analysisAssociation analysisPresence of population structureAncestry groupsGenetic ancestry groupsPopulation structureSequencing studiesSelf-reported raceGenetic researchQuality variantsAncestrySubsets of samplesProgram centersVariantsIncreasing diversityHeterogeneous sampleAncestralAssociationGeneticsSequence
2012
Efficient designs of gene–environment interaction studies: implications of Hardy–Weinberg equilibrium and gene–environment independence
Chen J, Kang G, VanderWeele T, Zhang C, Mukherjee B. Efficient designs of gene–environment interaction studies: implications of Hardy–Weinberg equilibrium and gene–environment independence. Statistics In Medicine 2012, 31: 2516-2530. PMID: 22362617, PMCID: PMC3448495, DOI: 10.1002/sim.4460.Peer-Reviewed Original ResearchConceptsPresence of G-E interactionsG-E interactionsSubsample of casesGene-environmentHardy-Weinberg equilibriumG-E independenceGene-environment interaction studiesGene-environment independenceRandom subsampleGenetic susceptibility variantsCase-control sampleEnvironmental risk factorsSusceptibility variantsExternal control dataRisk factorsGenetic effectsWald statisticInteraction studiesSubsampleVariable EControl dataEnvironmental effectsIndependenceDataWald
2009
Shrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies
Luo S, Mukherjee B, Chen J, Chatterjee N. Shrinkage estimation for robust and efficient screening of single‐SNP association from case‐control genome‐wide association studies. Genetic Epidemiology 2009, 33: 740-750. PMID: 19434716, PMCID: PMC3103068, DOI: 10.1002/gepi.20428.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesComputational BiologyComputer SimulationData Interpretation, StatisticalFalse Positive ReactionsGenetic MarkersGenomeGenome, HumanGenome-Wide Association StudyGenotypeHumansLikelihood FunctionsModels, StatisticalPolymorphism, Single NucleotideReproducibility of ResultsConceptsHardy-Weinberg equilibriumAssociation TestPopulation-based case-control designGenome-wide association scanGenome-wide association studiesSingle-SNP associationsCase-control designCase-control studyAssociation scansAssociation studiesGenetic markersSusceptibility SNPsRecessive effectUnderlying populationAssociationFalse-positive resultsEfficient screeningSNPsRare diseaseShrinkage estimatorsSimulation studyStudyTestTwo-degrees-of-freedomPopulation
2008
Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data
Sinha S, Gruber S, Mukherjee B, Rennert G. Inference of the Haplotype Effect in a Matched Case-Control Study Using Unphased Genotype Data. The International Journal Of Biostatistics 2008, 4: article 6. PMID: 20231916, PMCID: PMC2835450, DOI: 10.2202/1557-4679.1079.Peer-Reviewed Original ResearchConceptsCase-control studyUnphased genotype dataHardy-Weinberg equilibriumLocus-specific genotype dataGenotype dataBeta-Carotene Cancer Prevention StudyCancer Prevention StudyCase-control study designStudy of breast cancer patientsMatched Case-Control StudyCase-control designPhasing of haplotypesDisease risk modelsBreast cancer patientsPrevention StudyHaplotype effectsStudy designGametic phasePolymorphic lociHaplotype frequenciesCancer patientsLociConditional likelihood approachAssociationHaplotypes
2007
Estructura genética en cinco especies de flebótomos (Lutzomyia spp.) de la serie townsendi, grupo verrucarum, en Colombia (Diptera: Prychodidae)
Hernández C, Ruiz-García M, Munstermann L, Ferro C. Estructura genética en cinco especies de flebótomos (Lutzomyia spp.) de la serie townsendi, grupo verrucarum, en Colombia (Diptera: Prychodidae). Revista De Biología Tropical 2007, 56: 1717-39. PMID: 19419077, DOI: 10.15517/rbt.v56i4.5755.Peer-Reviewed Original ResearchConceptsHomozygous excessClear genetic differentiationRelated species pairsSpeciation eventsGenetic differentiationSpecies pairsDivergent speciesWahlund effectHeterozygosity levelsGeographic distanceNull allelesSpatial autocorrelation analysisHardy-Weinberg equilibriumFive speciesSpecies samplesSpeciesGenetic heterogeneityLutzomyia speciesYoungiIsoenzyme patternsAutocorrelation analysisTownsendiUPGMAIsoenzymesLoci
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