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dc.contributor.authorLin, C-Y
dc.contributor.authorTsai, L-C
dc.contributor.authorHsieh, H-M
dc.contributor.authorHuang, C-H
dc.contributor.authorYu, Y-J
dc.contributor.authorTseng, B
dc.contributor.authorLinacre, Adrian Matthew Thornton
dc.contributor.authorLee, J C-I
dc.date.accessioned2017-07-25T03:39:51Z
dc.date.available2017-07-25T03:39:51Z
dc.date.issued2017-07-10
dc.identifier.citationLin, C. Y., Tsai, L. C., Hsieh, H. M., Huang, C. H., Yu, Y. J., Tseng, B., ... & Lee, J. C. I. (2017). Investigation of length heteroplasmy in mitochondrial DNA control region by massively parallel sequencing. Forensic Science International: Genetics.en
dc.identifier.issn1872-4973
dc.identifier.urihttp://hdl.handle.net/2328/37356
dc.description© 2017 Elsevier. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This author accepted manuscript is made available following 12 month embargo from date of publication (July 2017) in accordance with the publisher’s archiving policyen
dc.description.abstractAccurate sequencing of the control region of the mitochondrial genome is notoriously difficult due to the presence of polycytosine bases, termed C-tracts. The precise number of bases that constitute a C-tract and the bases beyond the poly cytosines may not be accurately defined when analyzing Sanger sequencing data separated by capillary electrophoresis. Massively parallel sequencing has the potential to resolve such poor definition and provides the opportunity to discover variants due to length heteroplasmy. In this study, the control region of mitochondrial genomes from 20 samples was sequenced using both standard Sanger methods with separation by capillary electrophoresis and also using massively parallel DNA sequencing technology. After comparison of the two sets of generated sequence, with the exception of the C-tracts where length heteroplasmy was observed, all sequences were concordant. Sequences of three segments 16184–16193, 303–315 and 568–573 with C-tracts in HVI, II and III can be clearly defined from the massively parallel sequencing data using the program SEQ Mapper. Multiple sequence variants were observed in the length of C-tracts longer than 7 bases. Our report illustrates the accurate designation of all the length variants leading to heteroplasmy in the control region of the mitochondrial genome that can be determined by SEQ Mapper based on data generated by massively parallel DNA sequencing.en
dc.language.isoen
dc.publisherElsevieren
dc.rightsCopyright © 2017 Elsevier B.V. or its licensors or contributorsen
dc.subjectMitochondrial DNAen
dc.subjectControl regionen
dc.subjectLength heteroplasmyen
dc.subjectC-tracten
dc.subjectMassively parallel sequencingen
dc.subjectSEQ mapperen
dc.subjectForensic scienceen
dc.titleInvestigation of length heteroplasmy in mitochondrial DNA control region by massively parallel sequencingen
dc.typeArticleen
dc.identifier.doihttps://doi.org/10.1016/j.fsigen.2017.07.003en
dc.rights.holderElsevier.en
local.contributor.authorOrcidLookupLinacre, Adrian Matthew Thornton: https://orcid.org/0000-0001-5890-5548en_US


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