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An integrated pipeline for next-generation sequencing and annotation of mitochondrial genomes

机译:用于下一代线粒体基因组测序和注释的集成管道

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Mitochondrial (mt) genomics represents an understudied but important field of molecular biology. Increasingly, mt dysfunction is being linked to a range of human diseases, including neurodegenerative disorders, diabetes and impairment of childhood development. In addition, mt genomes provide important markers for systematic, evolutionary and population genetic studies. Some technological limitations have prevented the expanded generation and utilization of mt genomic data for some groups of organisms. These obstacles most acutely impede, but are not limited to, studies requiring the determination of complete mt genomic data from minute amounts of material (e.g. biopsy samples or microscopic organisms). Furthermore, post-sequencing bioinformatic annotation and analyses of mt genomes are time consuming and inefficient. Herein, we describe a high-throughput sequencing and bioinformatic pipeline for mt genomics, which will have implications for the annotation and analysis of other organellar (e.g. plastid or apicoplast genomes) and virus genomes as well as long, contiguous regions in nuclear genomes. We utilize this pipeline to sequence and annotate the complete mt genomes of 12 species of parasitic nematode (order Strongylida) simultaneously, each from an individual organism. These mt genomic data provide a rich source of markers for studies of the systematics and population genetics of a group of socioeconomically important pathogens of humans and other animals.
机译:线粒体(mt)基因组学是分子生物学领域一个尚未被研究但很重要的领域。 mt功能障碍越来越多地与一系列人类疾病相关,包括神经退行性疾病,糖尿病和儿童发育障碍。此外,mt基因组为系统的,进化的和种群遗传学研究提供了重要的标记。一些技术限制阻止了某些生物群的mt基因组数据的扩展生成和利用。这些障碍最严重地阻碍但不限于需要从少量物质(例如活检样品或显微生物)中确定完整mt基因组数据的研究。此外,测序后的生物信息学注释和mt基因组的分析既耗时又效率低下。在本文中,我们描述了mt基因组学的高通量测序和生物信息学流水线,这将对其他细胞器(例如质体或apicoplast基因组)和病毒基因组以及核基因组中较长的连续区域的注释和分析产生影响。我们利用该管道同时对来自寄生生物的12种寄生线虫(定居纲)的完整mt基因组进行测序和注释。这些mt基因组数据为研究人类和其他动物的一组社会经济重要病原体的系统学和种群遗传学提供了丰富的标记来源。

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