2019
In Silico Karyotyping of Chromosomally Polymorphic Malaria Mosquitoes in the Anopheles gambiae Complex
Love R, Redmond S, Pombi M, Caputo B, Petrarca V, della Torre A, Consortium T, Besansky N. In Silico Karyotyping of Chromosomally Polymorphic Malaria Mosquitoes in the Anopheles gambiae Complex. G3: Genes, Genomes, Genetics 2019, 9: 3249-3262. PMID: 31391198, PMCID: PMC6778791, DOI: 10.1534/g3.119.400445.Peer-Reviewed Original ResearchConceptsInversion genotypesSingle nucleotide polymorphismsInversion polymorphismTag single nucleotide polymorphismsChromosomal inversion polymorphismTag SNP genotypesAnopheles gambiae complexParacentric inversion polymorphismEnvironmental heterogeneityChromosomal rearrangementsImportant phenotypesMalaria mosquitoesSilico karyotypingNatural variationGambiae complexMosquito speciesTraditional cytogeneticsCytogenetic methodsBiallelic genotypesSignificant vectorSNP genotypesGonotrophic stagesNucleotide polymorphismsGenomeHuman malaria
2018
Mutations in Plasmodium falciparum actin-binding protein coronin confer reduced artemisinin susceptibility
Demas A, Sharma A, Wong W, Early A, Redmond S, Bopp S, Neafsey D, Volkman S, Hartl D, Wirth D. Mutations in Plasmodium falciparum actin-binding protein coronin confer reduced artemisinin susceptibility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 12799-12804. PMID: 30420498, PMCID: PMC6294886, DOI: 10.1073/pnas.1812317115.Peer-Reviewed Original ResearchConceptsCRISPR/Cas9-mediated gene editingDomain protein familyWhole genome sequence analysisProtein familySecond geneFunctional validationMutant formsDifferent genesMolecular mechanismsParental linesSequence analysisType of resistanceGene editingAfrican parasitesArtemisinin susceptibilityMechanisms of resistanceGenesGenetic determinantsParental parasitesMutationsSurvival assaysIndependent selectionParasite clonesProteinActive form
2016
Whole genome sequencing of Plasmodium falciparum from dried blood spots using selective whole genome amplification
Oyola S, Ariani C, Hamilton W, Kekre M, Amenga-Etego L, Ghansah A, Rutledge G, Redmond S, Manske M, Jyothi D, Jacob C, Otto T, Rockett K, Newbold C, Berriman M, Kwiatkowski D. Whole genome sequencing of Plasmodium falciparum from dried blood spots using selective whole genome amplification. Malaria Journal 2016, 15: 597. PMID: 27998271, PMCID: PMC5175302, DOI: 10.1186/s12936-016-1641-7.Peer-Reviewed Original ResearchConceptsVenous bloodSelective whole genome amplificationMalaria patientsDBS samplesBlood spotsPlasmodium falciparumClinical samplesSymptomatic malaria patientsHigh quality clinical samplesDried Blood SpotsP. falciparum DNAMalaria parasite Plasmodium falciparumHead comparisonParasite Plasmodium falciparumDrug resistance lociHealthcare applicationsPatientsWhole-genome sequencingGenome amplificationDBS extractsSNP concordanceWhole genome amplificationFalciparumCurrent dataScalable way
2015
Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae
Redmond S, Eiglmeier K, Mitri C, Markianos K, Guelbeogo W, Gneme A, Isaacs A, Coulibaly B, Brito-Fravallo E, Maslen G, Mead D, Niare O, Traore S, Sagnon N, Kwiatkowski D, Riehle M, Vernick K. Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae. BMC Genomics 2015, 16: 779. PMID: 26462916, PMCID: PMC4603968, DOI: 10.1186/s12864-015-2009-z.Peer-Reviewed Original ResearchConceptsGenetic mappingFounder coloniesHigh nucleotide diversityNon-model genomesLow linkage disequilibriumPhenotype-genotype mappingPopulation stratificationParasite infection levelsHuman malaria parasiteGenotyping of SNPsNucleotide diversityPooled sequencesAssociation mappingGenomic lociLinkage mappingPlasmodium falciparumSignificant SNPsMosquito systemMarker densityDNA poolsAnopheles gambiaeNatural variationIndividual mosquitoesLinkage disequilibriumSequencing identifies
2013
The zebrafish reference genome sequence and its relationship to the human genome
Howe K, Clark M, Torroja C, Torrance J, Berthelot C, Muffato M, Collins J, Humphray S, McLaren K, Matthews L, McLaren S, Sealy I, Caccamo M, Churcher C, Scott C, Barrett J, Koch R, Rauch G, White S, Chow W, Kilian B, Quintais L, Guerra-Assunção J, Zhou Y, Gu Y, Yen J, Vogel J, Eyre T, Redmond S, Banerjee R, Chi J, Fu B, Langley E, Maguire S, Laird G, Lloyd D, Kenyon E, Donaldson S, Sehra H, Almeida-King J, Loveland J, Trevanion S, Jones M, Quail M, Willey D, Hunt A, Burton J, Sims S, McLay K, Plumb B, Davis J, Clee C, Oliver K, Clark R, Riddle C, Elliott D, Threadgold G, Harden G, Ware D, Begum S, Mortimore B, Kerry G, Heath P, Phillimore B, Tracey A, Corby N, Dunn M, Johnson C, Wood J, Clark S, Pelan S, Griffiths G, Smith M, Glithero R, Howden P, Barker N, Lloyd C, Stevens C, Harley J, Holt K, Panagiotidis G, Lovell J, Beasley H, Henderson C, Gordon D, Auger K, Wright D, Collins J, Raisen C, Dyer L, Leung K, Robertson L, Ambridge K, Leongamornlert D, McGuire S, Gilderthorp R, Griffiths C, Manthravadi D, Nichol S, Barker G, Whitehead S, Kay M, Brown J, Murnane C, Gray E, Humphries M, Sycamore N, Barker D, Saunders D, Wallis J, Babbage A, Hammond S, Mashreghi-Mohammadi M, Barr L, Martin S, Wray P, Ellington A, Matthews N, Ellwood M, Woodmansey R, Clark G, Cooper J, Tromans A, Grafham D, Skuce C, Pandian R, Andrews R, Harrison E, Kimberley A, Garnett J, Fosker N, Hall R, Garner P, Kelly D, Bird C, Palmer S, Gehring I, Berger A, Dooley C, Ersan-Ürün Z, Eser C, Geiger H, Geisler M, Karotki L, Kirn A, Konantz J, Konantz M, Oberländer M, Rudolph-Geiger S, Teucke M, Lanz C, Raddatz G, Osoegawa K, Zhu B, Rapp A, Widaa S, Langford C, Yang F, Schuster S, Carter N, Harrow J, Ning Z, Herrero J, Searle S, Enright A, Geisler R, Plasterk R, Lee C, Westerfield M, de Jong P, Zon L, Postlethwait J, Nüsslein-Volhard C, Hubbard T, Crollius H, Rogers J, Stemple D. The zebrafish reference genome sequence and its relationship to the human genome. Nature 2013, 496: 498-503. PMID: 23594743, PMCID: PMC3703927, DOI: 10.1038/nature12111.Peer-Reviewed Original ResearchConceptsHigh-quality sequence assembliesHuman protein-coding genesProtein-coding genesReference genome sequenceKey genomic featuresHuman reference genomeZebrafish genomeZebrafish orthologueReference genomeGenome sequenceHuman genomeSequence assemblyGenomic featuresLarge genesGenomeGenesOrthologuesVertebratesSequenceAssembly
2006
VectorBase: a home for invertebrate vectors of human pathogens
Lawson D, Arensburger P, Atkinson P, Besansky N, Bruggner R, Butler R, Campbell K, Christophides G, Christley S, Dialynas E, Emmert D, Hammond M, Hill C, Kennedy R, Lobo N, MacCallum M, Madey G, Megy K, Redmond S, Russo S, Severson D, Stinson E, Topalis P, Zdobnov E, Birney E, Gelbart W, Kafatos F, Louis C, Collins F. VectorBase: a home for invertebrate vectors of human pathogens. Nucleic Acids Research 2006, 35: d503-d505. PMID: 17145709, PMCID: PMC1751530, DOI: 10.1093/nar/gkl960.Peer-Reviewed Original ResearchEnsembl 2006
Birney E, Andrews D, Caccamo M, Chen Y, Clarke L, Coates G, Cox T, Cunningham F, Curwen V, Cutts T, Down T, Durbin R, Fernandez-Suarez X, Flicek P, Gräf S, Hammond M, Herrero J, Howe K, Iyer V, Jekosch K, Kähäri A, Kasprzyk A, Keefe D, Kokocinski F, Kulesha E, London D, Longden I, Melsopp C, Meidl P, Overduin B, Parker A, Proctor G, Prlic A, Rae M, Rios D, Redmond S, Schuster M, Sealy I, Searle S, Severin J, Slater G, Smedley D, Smith J, Stabenau A, Stalker J, Trevanion S, Ureta-Vidal A, Vogel J, White S, Woodwark C, Hubbard T. Ensembl 2006. Nucleic Acids Research 2006, 34: d556-d561. PMID: 16381931, PMCID: PMC1347495, DOI: 10.1093/nar/gkj133.Peer-Reviewed Original ResearchConceptsGenome variation dataHuman genome variation dataNumber of genomesChordate genomesLarge genome sequencesMammalian genomesRegulatory annotationsYeast genomeRNA genesGenome sequenceCiona intestinalisGenomeVariation dataAnnotationGenesOpossumIntestinalisIntegrated sourceSequenceRhesus macaquesImport