2025
Advancing translational exposomics: bridging genome, exposome and personalized medicine
Sarigiannis D, Karakitsios S, Anesti O, Stem A, Valvi D, Sumner S, Chatzi L, Snyder M, Thompson D, Vasiliou V. Advancing translational exposomics: bridging genome, exposome and personalized medicine. Human Genomics 2025, 19: 48. PMID: 40307849, PMCID: PMC12044731, DOI: 10.1186/s40246-025-00761-6.Peer-Reviewed Original ResearchConceptsExposome-wide association studyBridge genomicsLifestyle exposuresEnhancing causal inferencePublic health decision-makingEnvironmental health researchHealth decision-makingMulti-omics technologiesGenomic variationGenomic dataAssociation studiesHealth outcomesBioinformatics approachHealth researchPrecision preventionGenetic variabilityExposome dataExposure-response relationshipMulti-OmicsGenomeInternal exposomeVulnerable populationsComplex diseasesDisease phenotypePublic healthBayesian Modeling of Cancer Outcomes Using Genetic Variables Assisted by Pathological Imaging Data
Im Y, Li R, Ma S. Bayesian Modeling of Cancer Outcomes Using Genetic Variables Assisted by Pathological Imaging Data. Statistics In Medicine 2025, 44: e10350. PMID: 39840672, PMCID: PMC11774474, DOI: 10.1002/sim.10350.Peer-Reviewed Original Research
2024
Evaluating Molecular and Clinical Predictors in Myelodysplastic Syndromes through Machine Learning Integration
Mosquera Orgueira A, Perez Encinas M, Pérez Míguez C, Crucitti D, Piñeiro Fiel M, Díaz Varela N, Mora E, Díaz-Beyá M, Montoro M, Pomares H, Ramos Ortega F, Tormo M, Jerez A, Nomdedeu J, de Miguel Sanchez C, Arenillas L, Carcel Corella P, Cedena Romero M, Xicoy B, Rivero M, Del Orbe Barreto R, Bewersdorf J, Stahl M, Stempel J, Kewan T, Zeidan A, Diez-Campelo M, Valcarcel D. Evaluating Molecular and Clinical Predictors in Myelodysplastic Syndromes through Machine Learning Integration. Blood 2024, 144: 6683-6683. DOI: 10.1182/blood-2024-198114.Peer-Reviewed Original ResearchLeukemia-free survivalPredictors of OSMyelodysplastic syndromeOverall survivalIPSS-MC-indexFLT3-ITDPredictors of leukemia-free survivalRevised International Prognostic Scoring SystemPrognostication of myelodysplastic syndromesInternational Prognostic Scoring SystemPrognostic scoring systemCox regression analysisMolecular dataClinical trial designIPSS-RGenetic variabilityMLL-PTDRandom survival forestPrognostic landscapePrognostic significanceLaboratory parametersAffected prognosisClinical predictorsClinical indicesAdvancing mouse models for transplantation research
Cravedi P, Riella L, Ford M, Valujskikh A, Menon M, Kirk A, Alegre M, Alessandrini A, Feng S, Kehn P, Najafian N, Hancock W, Heeger P, Maltzman J, Mannon R, Nadig S, Odim J, Turnquist H, Shaw J, West L, Luo X, Chong A, Bromberg J, group A. Advancing mouse models for transplantation research. American Journal Of Transplantation 2024, 24: 1362-1368. PMID: 38219866, DOI: 10.1016/j.ajt.2024.01.006.Peer-Reviewed Original ResearchMouse modelMechanisms of transplant rejectionTranslation to clinical trialsFood and Drug Administration-approved drugsMouse transplantation modelEffective clinical therapiesAdvanced mouse modelsTranslation of experimental findingsClinical outcomesTransplantation modelTransplant rejectionClinical trialsMouse studiesClinical therapyTransplantationClinical researchPhysician-scientistsGenetic variabilityTherapyStatistical power analysis
2022
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes
Mestiri S, Boussetta S, Pakstis AJ, Kamel S, Gaaied A, Kidd KK, Cherni L. New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes. Molecular Genetics & Genomic Medicine 2022, 10: e1871. PMID: 35128830, PMCID: PMC8922960, DOI: 10.1002/mgg3.1871.Peer-Reviewed Original ResearchConceptsNorth African populationsSingle nucleotide polymorphismsGenetic diversityGenetic variabilitySignificant gene flowHuman genetic diversityLowest average heterozygosityAfrican populationsGene flowEvolutionary forcesGenetic structureAverage heterozygosityAdmixed AmericansChromosome 3NRG1 geneChromosome 8Genetic relationshipsGenesDomain 1Nucleotide polymorphismsSushi multiple domains 1CSMD1 geneHaplotypic analysisWorldwide populationNew insights
2020
COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission
Godri Pollitt KJ, Peccia J, Ko AI, Kaminski N, Dela Cruz CS, Nebert DW, Reichardt JKV, Thompson DC, Vasiliou V. COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission. Human Genomics 2020, 14: 17. PMID: 32398162, PMCID: PMC7214856, DOI: 10.1186/s40246-020-00267-3.Peer-Reviewed Original Research
2019
Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico
Gonzalez-Covarrubias V, Morales-Franco M, Cruz-Correa OF, Martínez-Hernández A, García-Ortíz H, Barajas-Olmos F, Genis-Mendoza AD, Martínez-Magaña JJ, Nicolini H, Orozco L, Soberón X. Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico. Frontiers In Pharmacology 2019, 10: 1169. PMID: 31649539, PMCID: PMC6796793, DOI: 10.3389/fphar.2019.01169.Peer-Reviewed Original ResearchMajor continental groupsContinental groupsAllele frequenciesWide genetic variabilityNovel variationGenetic variabilityActionable pharmacogenetic variantsPharmacogenetic variantsGenesNovel SNVsFunctional impactNGS dataPharmacogenomic impactPharmacogenomics Knowledge BaseSequencing filesPharmacogenetic variationSNVsVariantsPharmacogenesAmerican populationActionable variantsPROVEANNativesFATHMMVariationGenetic Background Modifies the Topography of a Fitness Landscape, Influencing the Dynamics of Adaptive Evolution
Ogbunugafor C, Eppstein M. Genetic Background Modifies the Topography of a Fitness Landscape, Influencing the Dynamics of Adaptive Evolution. IEEE Access 2019, 7: 113675-113683. DOI: 10.1109/access.2019.2935911.Peer-Reviewed Original ResearchDynamics of adaptive evolutionAdaptive evolutionGenetic variabilityTopography of fitness landscapesFitness landscape topographyFitness landscapeApplications of evolutionary biologyEmpirical fitness landscapesEvolution of drug resistanceGenetic contextBackground modifiersDirection of evolutionEvolutionary biologyGenetic backgroundLandscape topographyDrug resistanceGenetically-modified organismsLociLandscapeBiological evolutionProteinEvolution
2018
Common and rare genetic variants of complement components in human disease
Goicoechea de Jorge E, López Lera A, Bayarri-Olmos R, Yebenes H, Lopez-Trascasa M, Rodríguez de Córdoba S. Common and rare genetic variants of complement components in human disease. Molecular Immunology 2018, 102: 42-57. PMID: 29914697, DOI: 10.1016/j.molimm.2018.06.011.Peer-Reviewed Original ResearchConceptsGenetic variabilityGenetic variantsImportant genotype-phenotype correlationsDetailed functional characterizationRare genetic variantsFunctional characterizationHuman diseasesGenotype-phenotype correlationGenetic makeupFunctional implicationsDevelopment of diseaseComplement systemComplement variantsCommon polymorphismsPathogenic mechanismsComplement proteinsVariantsUnknown featuresNumber of reportsProteinKey insightsPrecision medicine approachRegulationParticular diseaseComplement components
2017
Genetic diversity of Glossina fuscipes fuscipes along the shores of Lake Victoria in Tanzania and Kenya: implications for management
Manangwa O, Nkwengulila G, Ouma JO, Mramba F, Malele I, Dion K, Sistrom M, Khan F, Aksoy S, Caccone A. Genetic diversity of Glossina fuscipes fuscipes along the shores of Lake Victoria in Tanzania and Kenya: implications for management. Parasites & Vectors 2017, 10: 268. PMID: 28558831, PMCID: PMC5450392, DOI: 10.1186/s13071-017-2201-x.Peer-Reviewed Original ResearchGenetic characterization, molecular epidemiology, and phylogenetic relationships of insect-specific viruses in the taxon Negevirus
Nunes MRT, Contreras-Gutierrez MA, Guzman H, Martins LC, Barbirato MF, Savit C, Balta V, Uribe S, Vivero R, Suaza JD, Oliveira H, Neto J, Carvalho VL, da Silva SP, Cardoso JF, de Oliveira RS, da Silva Lemos P, Wood TG, Widen SG, Vasconcelos PFC, Fish D, Vasilakis N, Tesh RB. Genetic characterization, molecular epidemiology, and phylogenetic relationships of insect-specific viruses in the taxon Negevirus. Virology 2017, 504: 152-167. PMID: 28193550, PMCID: PMC5394984, DOI: 10.1016/j.virol.2017.01.022.Peer-Reviewed Original ResearchConceptsInsect-specific virusesGenetic characterizationNovel insect-specific virusesPlant virus generaMajor phylogenetic groupsHigh genetic variabilityComprehensive genetic characterizationFull-length sequencesCross-species transmissionPhylogenetic relationshipsEvolutionary analysisVirus taxaGenetic variabilityPhylogenetic groupsDistinct generaVirus genusNegevirusesMolecular analysisGenusMolecular epidemiologyDiverse groupPhlebotomine sandfliesTaxaArthropodsVirus
2014
GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations
Karaca S, Karaca M, Cesuroglu T, Erge S, Polimanti R. GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations. American Journal Of Human Biology 2014, 27: 310-316. PMID: 25515186, DOI: 10.1002/ajhb.22671.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGenetic association studiesSequence variationAssociation studiesFunctional variantsHigh linkage disequilibriumFuture genetic association studiesWorldwide populationCommon functional variantsGenetic diversityGenetic variabilityGenome ProjectOxidative stress-related diseasesGST genesLinkage disequilibriumEastern populationsDiversity ProjectGSTP1 functionStress-related diseasesStudy of diseasesGenetic polymorphismsSequenom MassARRAY platformPolymorphismVariantsGlutathione S-transferase variantsFunctional variability of glutathione S‐transferases in basque populations
Iorio A, Piacentini S, Polimanti R, De Angelis F, Calderon R, Fuciarelli M. Functional variability of glutathione S‐transferases in basque populations. American Journal Of Human Biology 2014, 26: 361-366. PMID: 24677736, DOI: 10.1002/ajhb.22520.Peer-Reviewed Original ResearchConceptsHuman Genome Diversity ProjectGlutathione S-transferaseS-transferaseFunctional variabilityGenetic structureGenetic association studiesCellular detoxificationGenetic variabilityGenome ProjectGST genesAssociation studiesHigh differentiationDiversity ProjectMediterranean populationsGenesCorrespondence analysisBasque populationEnzyme activityHuman populationDNA extractionPCR multiplexWorldwide populationPCR-RFLP methodPolymorphic variantsDrug response
2013
PlasmoView: A Web-based Resource to Visualise Global Plasmodium falciparum Genomic Variation
Preston M, Assefa S, Ocholla H, Sutherland C, Borrmann S, Nzila A, Michon P, Hien T, Bousema T, Drakeley C, Zongo I, Ouédraogo J, Djimde A, Doumbo O, Nosten F, Fairhurst R, Conway D, Roper C, Clark T. PlasmoView: A Web-based Resource to Visualise Global Plasmodium falciparum Genomic Variation. The Journal Of Infectious Diseases 2013, 209: 1808-1815. PMID: 24338354, PMCID: PMC4017360, DOI: 10.1093/infdis/jit812.Peer-Reviewed Original ResearchConceptsGenomic variationSingle nucleotide polymorphismsHigh-quality single nucleotide polymorphismsHigh-throughput sequencingInter-population differencesGenetic barcodesPlasmodium biologyGenetic variabilityGenomic dataInformative variantsDrug resistanceParasite populationsDifferential phenotypesLaboratory strainsMalaria parasitesNovel mutationsGlobal public health challengeNew insightsPf isolatesMalaria-endemic regionsPublic health challengePlasmodium falciparum speciesMedicine applicationsWeb-based resourcesClinical studies
2012
Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
Polimanti R, Carboni C, Baesso I, Piacentini S, Iorio A, De Stefano GF, Fuciarelli M. Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems. Gene 2012, 512: 102-107. PMID: 23043933, DOI: 10.1016/j.gene.2012.09.113.Peer-Reviewed Original ResearchConceptsGenetic association studiesGenetic variabilityAssociation studiesHuman populationFunctional genetic differencesDetoxification genesGlutathione S-transferaseCellular detoxificationEnzymatic functionGlutathione S-transferase enzymesGST genesBiological processesGenetic differencesDetoxification systemGenesGST enzymesS-transferaseFunctional impactLoF variantsFunction variantsGSTEnzymeHapMap databaseGenetic polymorphismsKey role
2011
Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children
Piacentini S, Verrotti A, Polimanti R, Giannini C, Saccucci P, Manfellotto D, Fuciarelli M. Functional polymorphisms of GSTA1 and GSTO2 genes associated with asthma in Italian children. Clinical Chemistry And Laboratory Medicine 2011, 50: 311-315. PMID: 22040239, DOI: 10.1515/cclm.2011.774.Peer-Reviewed Original ResearchConceptsGlutathione S-transferaseAsthma developmentGSTO2 gene polymorphismsSingle nucleotide polymorphismsGenetic variabilityAssociation studiesCellular protectionAntioxidant defense systemGSTO2 genesGSTT1 genotype distributionFunctional polymorphismsNucleotide polymorphismsPathogenesis of asthmaS-transferaseCase-control studyIndependent case-control studiesSusceptible genesDefense systemGSTT1 null genotypeEffect of GSTM1GenesBronchial inflammationGSTA1GSTO2Airway disordersHapMap-based study of human soluble glutathione S-transferase enzymes
Polimanti R, Piacentini S, Fuciarelli M. HapMap-based study of human soluble glutathione S-transferase enzymes. Pharmacogenetics And Genomics 2011, 21: 665-672. PMID: 21799460, DOI: 10.1097/fpc.0b013e328349da4d.Peer-Reviewed Original ResearchConceptsNatural selectionGST genesGenetic variabilityGlutathione S-transferase enzymesSingle nucleotide polymorphism (SNP) diversityHuman genome regionsHuman demographic historyHuman genetic variabilityGST SNPsInternational HapMap ProjectSingle nucleotide substitutionChromosomal clustersDemographic historyGenome regionsGenome scanCellular detoxificationCandidate genesHapMap projectNucleotide substitutionsGenesHapMap dataComplex diseasesPopulation differencesF-statisticsSNPsInfluence of Host Phylogeographic Patterns and Incomplete Lineage Sorting on Within-Species Genetic Variability in Wigglesworthia Species, Obligate Symbionts of Tsetse Flies
Symula RE, Marpuri I, Bjornson RD, Okedi L, Beadell J, Alam U, Aksoy S, Caccone A. Influence of Host Phylogeographic Patterns and Incomplete Lineage Sorting on Within-Species Genetic Variability in Wigglesworthia Species, Obligate Symbionts of Tsetse Flies. Applied And Environmental Microbiology 2011, 77: 8400-8408. PMID: 21948847, PMCID: PMC3233068, DOI: 10.1128/aem.05688-11.Peer-Reviewed Original ResearchConceptsObligate symbiontsHost speciesGenetic variationMultiple host populationsIncongruence length difference testIncomplete lineage sortingHost-symbiont combinationsSingle host speciesPopulation-level processesIncomplete lineageLineage sortingPhylogeographic patternsSouthern lineagesSymbiont lineagesHost mtDNAWigglesworthia glossinidiaMolecular varianceBacterial symbiontsEvolutionary associationEvolutionary historySouthern populationsMitochondrial DNA haplogroupsVariable lociSymbiontsGenetic variabilityPhylogenetics of the Phlebotomine Sand Fly Group Verrucarum (Diptera: Psychodidae: Lutzomyia)
Cohnstaedt LW, Beati L, Caceres AG, Ferro C, Munstermann LE. Phylogenetics of the Phlebotomine Sand Fly Group Verrucarum (Diptera: Psychodidae: Lutzomyia). American Journal Of Tropical Medicine And Hygiene 2011, 84: 913-922. PMID: 21633028, PMCID: PMC3110367, DOI: 10.4269/ajtmh.2011.11-0040.Peer-Reviewed Original ResearchConceptsInterspecific genetic variabilityVerrucarum species groupVerrucarum groupParaphyletic lineagesMonophyletic lineageCOI sequencesPhylogenetic relationshipsSpecies groupsTaxonomic statusPhylogenetic analysisIntraspecific variabilityGenetic variabilityTaxonomic toolGenetic sequencesSpeciesLutzomyia verrucarumGenus LutzomyiaLineagesSouth AmericaVerrucarumAndean regionPrincipal vectorLutzomyiaMorphological classificationSequence
2010
Population Genetic Structure of Aldabra Giant Tortoises
Balmer O, Ciofi C, Galbraith D, Swingland I, Zug G, Caccone A. Population Genetic Structure of Aldabra Giant Tortoises. Journal Of Heredity 2010, 102: 29-37. PMID: 20805288, DOI: 10.1093/jhered/esq096.Peer-Reviewed Original ResearchConceptsGenetic structurePopulation structureGiant tortoisesMitochondrial DNA control region sequencesPopulation genetic structureSignificant population structureControl region sequencesAldabra giant tortoisePrevious ecological studiesAllopatric divergenceNuclear lociPopulation subdivisionHabitat variationMtDNA sequencesMicrosatellite lociPopulation geneticsUnsuitable habitatGenetic variabilityAllelic variationRegion sequencesEcological factorsTerrestrial ecosystemsPopulation dynamicsAldabra AtollGeographical barriers
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply