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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/18785


    Title: Quantitative assessment of mitochondrial DNA copies from whole genome sequencing
    Authors: 朱學亭;Chu, Hsueh-Ting;葉慈容;Tze-Jung Yeh,;陳仁治;Jen-Chih Chen,;黃敦銘;Huang, Dun-Ming;陳朝欽;Chen, Chaur-Chin;高成炎;Kao, Cheng-Yan
    Contributors: 資訊工程學系
    Date: 2012-09
    Issue Date: 2012-11-26 05:58:32 (UTC+0)
    Abstract: Background: Mitochondrial dysfunction is associated with various aging diseases. The copy number of mtDNA in
    human cells may therefore be a potential biomarker for diagnostics of aging. Here we propose a new
    computational method for the accurate assessment of mtDNA copies from whole genome sequencing data.
    Results: Two families of the human whole genome sequencing datasets from the HapMap and the 1000 Genomes
    projects were used for the accurate counting of mitochondrial DNA copy numbers. The results revealed the
    parental mitochondrial DNA copy numbers are significantly lower than that of their children in these samples.
    There are 8%~21% more copies of mtDNA in samples from the children than from their parents. The experiment
    demonstrated the possible correlations between the quantity of mitochondrial DNA and aging-related diseases.
    Conclusions: Since the next-generation sequencing technology strives to deliver affordable and non-biased
    sequencing results, accurate assessment of mtDNA copy numbers can be achieved effectively from the output of
    whole genome sequencing. We implemented the method as a software package MitoCounter with the source
    code and user’s guide available to the public at http://sourceforge.net/projects/mitocounter/.
    Relation: BMC GENOMICS
    Appears in Collections:[Department of Computer Science and Information Engineering] Journal Artical

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