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[基因组时代的线粒体基因组组装策略与软件应用]

[Mitogenome assembly strategies and software applications in the genome era].

作者信息

Kuang Wei Min, Yu Li

机构信息

State Key Laboratory for Conservation and Utilization of Bio-Resource in Yunnan, School of Life Sciences, Yunnan University, Kunming 650091, China.

出版信息

Yi Chuan. 2019 Nov 20;41(11):979-993. doi: 10.16288/j.yczz.19-227.

Abstract

With rapid advances in next-generation sequencing technologies, the genomes of many organisms have been sequenced and widely applied in different settings. Mitochondrial genome data is equally important and the high-throughput whole-genome data typically contain mitochondrial genome (mitogenome) sequences. How to extract and assemble the mitogenome from massive whole-genome sequencing (WGS) data remain a hot area in molecular biology, genetics and medicine. The cataloging and analysis of accumulating mitogenome data promotes the development of assembly strategies and corresponding software applications related to mitochondrial DNA from the WGS data. Mitogenome assembly strategies can be divided into mitogenome-reference strategy and de novo strategy. Each strategy has different advantages and limitations with respect to the difference of bait mitogenome-linked short reads from the WGS data and corresponding assembly strategy. In this review, we summarize and compare current mitogenome assembly strategies and the software applications available. We also provide suggestions related to use different assembly strategies and software applications, and the expected benefits and limitations of methods references in life science.

摘要

随着下一代测序技术的飞速发展,许多生物的基因组已被测序并广泛应用于不同领域。线粒体基因组数据同样重要,高通量全基因组数据通常包含线粒体基因组(有丝分裂基因组)序列。如何从海量全基因组测序(WGS)数据中提取和组装有丝分裂基因组仍然是分子生物学、遗传学和医学领域的一个热点。对不断积累的有丝分裂基因组数据进行编目和分析,推动了从WGS数据中组装线粒体DNA的策略及相应软件应用的发展。有丝分裂基因组组装策略可分为有丝分裂基因组参考策略和从头组装策略。由于WGS数据中与诱饵有丝分裂基因组相连的短读长的差异以及相应的组装策略,每种策略都有不同的优缺点。在本综述中,我们总结并比较了当前的有丝分裂基因组组装策略及可用的软件应用。我们还提供了有关使用不同组装策略和软件应用的建议,以及生命科学中方法参考的预期益处和局限性。

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