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dc.contributor.authorOchoa, Eguzkine
dc.contributor.authorZuber, Verena
dc.contributor.authorBottolo, Leonardo
dc.date.accessioned2022-07-08T23:30:10Z
dc.date.available2022-07-08T23:30:10Z
dc.date.issued2022
dc.identifier.issn1064-3745
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/338949
dc.description.abstractDNA methylation is a key epigenetic modification involved in gene regulation whose contribution to disease susceptibility is still not fully understood. As the cost of genome sequencing technologies continues to drop, it will soon become commonplace to perform genome-wide quantification of DNA methylation at a single base-pair resolution. However, the demand for its accurate quantification might vary across studies. When the scope of the analysis is to detect regions of the genome with different methylation patterns between two or more conditions, e.g., case vs control; treatments vs placebo, accuracy is not crucial. This is the case in epigenome-wide association studies used as genome-wide screening of methylation changes to detect new candidate genes and regions associated with a specific disease or condition. If the aim of the analysis is to use DNA methylation measurements as a biomarker for diseases diagnosis and treatment (Laird, Nat Rev Cancer 3:253-266, 2003; Bock, Epigenomics 1:99-110, 2009), it is instead recommended to produce accurate methylation measurements. Furthermore, if the objective is the detection of DNA methylation in subclonal tumor cell populations or in circulating tumor DNA or in any case of mosaicism, the importance of accuracy becomes critical. The aim of this chapter is to describe the factors that could affect the precise measurement of methylation levels and a recent Bayesian statistical method called MethylCal and its extension that have been proposed to minimize this problem.
dc.format.mediumPrint
dc.publisherSpringer US
dc.rightsAll Rights Reserved
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserved
dc.subjectCalibration technical replicates
dc.subjectCorrected methylation degree
dc.subjectDifferential calibrated analysis
dc.subjectIncomplete bisulfite conversion
dc.subjectRegion and coverage bias
dc.subjectBayes Theorem
dc.subjectDNA Methylation
dc.subjectEpigenesis, Genetic
dc.subjectEpigenomics
dc.subjectGenome
dc.titleAccurate Measurement of DNA Methylation: Challenges and Bias Correction.
dc.typeArticle
dc.publisher.departmentDepartment of Medical Genetics
dc.date.updated2022-07-06T07:00:53Z
prism.endingPage47
prism.publicationDate2022
prism.publicationNameMethods Mol Biol
prism.startingPage25
prism.volume2432
dc.identifier.doi10.17863/CAM.86356
rioxxterms.versionofrecord10.1007/978-1-0716-1994-0_3
rioxxterms.versionAM
dc.contributor.orcidBottolo, Leonardo [0000-0002-6381-2327]
dc.identifier.eissn1940-6029
rioxxterms.typeJournal Article/Review
cam.issuedOnline2022-05-04
cam.orpheus.success2022-07-08 - Embargo set during processing via Fast-track
cam.depositDate2022-07-06
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement
rioxxterms.freetoread.startdate2023-05-04


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