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dc.contributor.authorLibertini, Emanueleen_US
dc.contributor.authorHeath, Simon C.en_US
dc.contributor.authorHamoudi, Rifat A.en_US
dc.contributor.authorGut, Martaen_US
dc.contributor.authorZiller, Michael J.en_US
dc.contributor.authorCzyz, Agataen_US
dc.contributor.authorRuotti, Victoren_US
dc.contributor.authorStunnenberg, Hendrik G.en_US
dc.contributor.authorFrontini, Mattiaen_US
dc.contributor.authorOuwehand, Willem H.en_US
dc.contributor.authorMeissner, Alexanderen_US
dc.contributor.authorGut, Ivo G.en_US
dc.contributor.authorBeck, Stephanen_US
dc.date.accessioned2016-08-09T14:53:21Z
dc.date.issued2016en_US
dc.identifier.citationLibertini, E., S. C. Heath, R. A. Hamoudi, M. Gut, M. J. Ziller, A. Czyz, V. Ruotti, et al. 2016. “Information recovery from low coverage whole-genome bisulfite sequencing.” Nature Communications 7 (1): 11306. doi:10.1038/ncomms11306. http://dx.doi.org/10.1038/ncomms11306.en
dc.identifier.issn2041-1723en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:27822277
dc.description.abstractThe cost of whole-genome bisulfite sequencing (WGBS) remains a bottleneck for many studies and it is therefore imperative to extract as much information as possible from a given dataset. This is particularly important because even at the recommend 30X coverage for reference methylomes, up to 50% of high-resolution features such as differentially methylated positions (DMPs) cannot be called with current methods as determined by saturation analysis. To address this limitation, we have developed a tool that dynamically segments WGBS methylomes into blocks of comethylation (COMETs) from which lost information can be recovered in the form of differentially methylated COMETs (DMCs). Using this tool, we demonstrate recovery of ∼30% of the lost DMP information content as DMCs even at very low (5X) coverage. This constitutes twice the amount that can be recovered using an existing method based on differentially methylated regions (DMRs). In addition, we explored the relationship between COMETs and haplotypes in lymphoblastoid cell lines of African and European origin. Using best fit analysis, we show COMETs to be correlated in a population-specific manner, suggesting that this type of dynamic segmentation may be useful for integrated (epi)genome-wide association studies in the future.en
dc.language.isoen_USen
dc.publisherNature Publishing Groupen
dc.relation.isversionofdoi:10.1038/ncomms11306en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931220/pdf/en
dash.licenseLAAen_US
dc.titleInformation recovery from low coverage whole-genome bisulfite sequencingen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature Communicationsen
dash.depositing.authorZiller, Michael J.en_US
dc.date.available2016-08-09T14:53:21Z
dc.identifier.doi10.1038/ncomms11306*
dash.authorsorderedfalse
dash.contributor.affiliatedZiller, Michael
dash.contributor.affiliatedMeissner, Alexander


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