2016
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes
Cuellar-Partida G, Lu Y, Dixon SC, Australian Ovarian Cancer Study, Fasching PA, Hein A, Burghaus S, Beckmann MW, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty JA, Rossing MA, Chang-Claude J, Rudolph A, Wang-Gohrke S, Goodman MT, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari LM, Edwards RP, Kelley JL, Modugno F, Moysich KB, Ness RB, Cannioto R, Høgdall E, Høgdall C, Jensen A, Giles GG, Bruinsma F, Kjaer SK, Hildebrandt MA, Liang D, Lu KH, Wu X, Bisogna M, Dao F, Levine DA, Cramer DW, Terry KL, Tworoger SS, Stampfer M, Missmer S, Bjorge L, Salvesen HB, Kopperud RK, Bischof K, Aben KK, Kiemeney LA, Massuger LF, Brooks-Wilson A, Olson SH, McGuire V, Rothstein JH, Sieh W, Whittemore AS, Cook LS, Le ND, Blake Gilks C, Gronwald J, Jakubowska A, Lubiński J, Kluz T, Song H, Tyrer JP, Wentzensen N, Brinton L, Trabert B, Lissowska J, McLaughlin JR, Narod SA, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Campbell I, Gayther SA, Gentry-Maharaj A, Menon U, Ramus SJ, Wu AH, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham JM, Fridley BL, Winham SJ, Bandera EV, Poole EM, Morgan TK, Goode EL, Schildkraut JM, Pearce CL, Berchuck A, Pharoah PD, Webb PM, Chenevix-Trench G, Risch HA, MacGregor S. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes. Human Genetics 2016, 135: 741-756. PMID: 27075448, PMCID: PMC4976079, DOI: 10.1007/s00439-016-1663-9.Peer-Reviewed Original ResearchConceptsGenetic architectureEpithelial ovarian cancerGenetic correlationsCross-trait LD-score regressionLD score regressionSignificant genetic correlationsGenetic variants confer susceptibilityChromosome sizeAssociated lociICOGS arrayHigh-grade serous diseaseTotal heritabilityGenetic backgroundScore regressionHigh-grade subtypesClear cell carcinomaGenetic overlapHeritabilityOvarian Cancer Association ConsortiumEOC subtypesEOC patientsHistological subtypesCell carcinomaCommon cancerSerous disease
2014
Comparative Genomics Reveals Multiple Genetic Backgrounds of Human Pathogenicity in the Trypanosoma brucei Complex
Sistrom M, Evans B, Bjornson R, Gibson W, Balmer O, Mäser P, Aksoy S, Caccone A. Comparative Genomics Reveals Multiple Genetic Backgrounds of Human Pathogenicity in the Trypanosoma brucei Complex. Genome Biology And Evolution 2014, 6: 2811-2819. PMID: 25287146, PMCID: PMC4224348, DOI: 10.1093/gbe/evu222.Peer-Reviewed Original ResearchConceptsT. brucei complexGenomic variationLife historyVariable life historiesAverage linkage disequilibriumTrypanosoma brucei complexGenome-wide studiesMeiotic reciprocal recombinationWhole genome sequencesMultiple genetic backgroundsHuman pathogenicityNumber of subspeciesHuman-infective parasiteNuclear genomeComparative genomicsChromosome sizeEukaryotic parasitesGenomic regionsHuman African trypanosomiasisRegulatory genesTaxonomic designationsDiverse hostsSingle nucleotide polymorphismsGenetic variationReciprocal recombination
1992
Horizontal transfer of a phosphatase gene as evidence for mosaic structure of the Salmonella genome.
Groisman EA, Saier MH, Ochman H. Horizontal transfer of a phosphatase gene as evidence for mosaic structure of the Salmonella genome. The EMBO Journal 1992, 11: 1309-1316. PMID: 1339343, PMCID: PMC556579, DOI: 10.1002/j.1460-2075.1992.tb05175.x.Peer-Reviewed Original ResearchMeSH KeywordsAcid PhosphataseAmino Acid SequenceBase CompositionBase SequenceChromosomes, BacterialCloning, MolecularCodonDNAEscherichia coliGenes, BacterialGenome, BacterialMolecular Sequence DataMosaicismPhylogenyPlasmidsRestriction MappingSalmonella typhimuriumSequence Homology, Nucleic AcidTransfectionConceptsBase compositionPhoN geneNon-specific acid phosphatase activityAtypical base compositionSpacing of genesOverall base compositionNon-specific acid phosphataseCodon usage patternsGram-negative speciesChromosome sizeBacterial genomesPhosphatase geneKb regionSalmonella chromosomeSalmonella genomeGenetic basisHorizontal transferAcid phosphatase activityTrinucleotide frequenciesHigh similarityGenomeGenesEscherichia coliPhosphatase activityOriT region
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