High-throughput sequencing in mitochondrial DNA research.
High-throughput sequencing in mitochondrial DNA research.
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DOI：
10.1016/j.mito.2014.05.004
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发表时间：
2014-07
期刊：
影响因子：
4.4
通讯作者：
Guo, Yan
中科院分区：
文献类型：
--
作者：
Ye, Fei;Samuels, David C.;Clark, Travis;Guo, Yan
下一代测序，也被称为高通量测序，极大地增强了研究人员在各个层面进行生物医学研究的能力。线粒体研究也大大受益于高通量测序；测序技术现在可以同时对线粒体基因组的所有16569个碱基对进行SNP和低水平异质性的筛查，在某些情况下，还可以估计线粒体DNA拷贝数。充分发挥高通量测序的潜力对推进线粒体研究具有重要意义。为此，我们回顾了高通量测序如何在SNPs、低水平异质性、拷贝数和结构变体等类别中影响线粒体研究。我们还讨论了不同类型的线粒体DNA测序及其优缺点。在前人研究的基础上，我们提出了处理线粒体DNA测序数据的策略，包括组装、变体调用和质量控制。
Next-generation sequencing, also known as high-throughput sequencing, has greatly enhanced researchers’ ability to conduct biomedical research on all levels. Mitochondrial research has also benefitted greatly from high-throughput sequencing; sequencing technology now allows for screening of all 16569 base pairs of the mitochondrial genome simultaneously for SNPs and low level heteroplasmy and, in some cases, the estimation of mitochondrial DNA copy number. It is important to realize the full potential of high-throughput sequencing for the advancement of mitochondrial research. To this end, we review how high-throughput sequencing has impacted mitochondrial research in the categories of SNPs, low level heteroplasmy, copy number, and structural variants. We also discuss the different types of mitochondrial DNA sequencing and their pros and cons. Based on previous studies conducted by various groups, we provide strategies for processing mitochondrial DNA sequencing data, including assembly, variant calling, and quality control.
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影响因子：
4.5
作者：
Ameur A;Stewart JB;Freyer C;Hagström E;Ingman M;Larsson NG;Gyllensten U
通讯作者：
Gyllensten U
影响因子：
--
作者：
Bai RK;Chang J;Yeh KT;Lou MA;Lu JF;Tan DJ;Liu H;Wong LJ
通讯作者：
Wong LJ
影响因子：
4.3
作者：
Ai, Sylvia Si Yang;Hsu, Kenneth;Thomas, Paul S.
通讯作者：
Thomas, Paul S.
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
4.4
作者：
Dinwiddie DL;Smith LD;Miller NA;Atherton AM;Farrow EG;Strenk ME;Soden SE;Saunders CJ;Kingsmore SF
通讯作者：
Kingsmore SF