2022
Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia
Xu K, Li S, Pandey P, Kang AY, Morimoto LM, Mancuso N, Ma X, Metayer C, Wiemels JL, de Smith AJ. Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia. Human Molecular Genetics 2022, 31: 3741-3756. PMID: 35717575, PMCID: PMC9616572, DOI: 10.1093/hmg/ddac137.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesSingle nucleotide polymorphismsGenetic risk lociDNA methylationRisk single nucleotide polymorphismsRisk lociAssociation studiesHeritable genetic variationGenome-wide association studiesMost single nucleotide polymorphismsDNA methylation differencesNon-European populationsEpigenetic mechanismsGenetic variationMethylation differencesSignificant DMPsPromoter regionFunctional pathwaysCpG positionsAssociation analysisFunctional roleMethylationNucleotide polymorphismsLociBlood DNA
2019
Identification of genetic variations in Necator americanus through resequencing by whole genome amplification
Liu Y, Liu H, Xie Y, Zhang B, Zou X, Ou M, Ye X, Han Y, Wu J, Chen X, Dong S, Zhu K, Guo C, Wang P, Zhai H, Jing C, Yang G. Identification of genetic variations in Necator americanus through resequencing by whole genome amplification. Journal Of International Medical Research 2019, 47: 4353-4364. PMID: 31331217, PMCID: PMC6753555, DOI: 10.1177/0300060519862069.Peer-Reviewed Original ResearchConceptsWhole-genome resequencingSingle nucleotide polymorphismsGenome resequencingGenetic variationParasite genome sequencesDe novo genome assemblyMost single nucleotide polymorphismsGene ontology analysisNovo genome assemblyMultiple displacement amplification (MDA) methodCommon drug targetsWhole genome amplificationGenome assemblyOntology analysisReference genomeGenome sequenceGO analysisSequencing readsDrug targetsGenome amplificationSmall parasitesNucleotide polymorphismsParasite samplesGenotype probabilitiesResequencing
2015
Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Coetzee S, Shen H, Hazelett D, Lawrenson K, Kuchenbaecker K, Tyrer J, Rhie S, Levanon K, Karst A, Drapkin R, Ramus S, Consortium T, Couch F, Offit K, Chenevix-Trench G, Monteiro A, Antoniou A, Freedman M, Coetzee G, Pharoah P, Noushmehr H, Gayther S, Consortium T, Tyrer J, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Berchuck A, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, James P, Jensen A, Ji B, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tsai Y, Tworoger S, Tyrer J, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A. Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci. Human Molecular Genetics 2015, 24: 3595-3607. PMID: 25804953, PMCID: PMC4459387, DOI: 10.1093/hmg/ddv101.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCell typesOvarian cancer susceptibility lociSusceptibility lociFunctional targetSusceptibility variantsComplex trait geneticsRegulatory DNA elementsMost single nucleotide polymorphismsEpithelial cellsHigh-grade serous ovarian cancerHuman mammary epithelial cellsCancer susceptibility lociRisk single nucleotide polymorphismsMammary epithelial cellsNormal human mammary epithelial cellsRisk-associated single nucleotide polymorphismsDifferent cell typesOvarian surface epithelial cellsWide annotationPrecursor cell typesOpen chromatinRegulatory variationGenetic susceptibility variantsHistone modifications
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