ミズノ　フヅキ   Mizuno Fuzuki   水野　文月    所属   東邦大学  医学部 医学科    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	MitoIMP: A computational framework for imputation of missing data in low-coverage human mitochondrial genome
掲載誌名	正式名：Bioinformatics and Biology Insights
掲載区分	国外
巻・号・頁	13,pp.1-9
著者・共著者	Ishiya K, Mizuno F†, Wang L, and Ueda S.
担当区分	2nd著者
発行年月	2019/09
概要	The incompleteness of partial human mitochondrial genome sequences makes it difficult to perform relevant comparisons among multiple resources. To deal with this issue, we propose a computational framework for deducing missing nucleotides in the human mitochondrial genome. We applied it to worldwide mitochondrial haplogroup lineages and assessed its performance. Our approach can deduce the missing nucleotides with a precision of 0.99 or higher in most human mitochondrial DNA lineages. Furthermore, although low-coverage mitochondrial genome sequences often lead to a blurred relationship in the multidimensional scaling analysis, our approach can correct this positional arrangement according to the corresponding mitochondrial DNA lineages. Therefore, our framework will provide a practical solution to compensate for the lack of genome coverage in partial and fragmented human mitochondrial genome sequences. In this study, we developed an open-source computer program, MitoIMP, implementing our imputation procedure. MitoIMP is freely available from https://github.com/omicstools/mitoimp.