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通过 SNP 检测以及基于 PALEOMIX 的系统发生基因组学和宏基因组学分析来对古代和现代基因组进行特征分析。

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

机构信息

Centre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark.

Biomedical Informatics and Computational Biology Graduate Program, University of Minnesota Rochester, Rochester, Minnesota, USA.

出版信息

Nat Protoc. 2014 May;9(5):1056-82. doi: 10.1038/nprot.2014.063. Epub 2014 Apr 10.

Abstract

Next-generation sequencing technologies have revolutionized the field of paleogenomics, allowing the reconstruction of complete ancient genomes and their comparison with modern references. However, this requires the processing of vast amounts of data and involves a large number of steps that use a variety of computational tools. Here we present PALEOMIX (http://geogenetics.ku.dk/publications/paleomix), a flexible and user-friendly pipeline applicable to both modern and ancient genomes, which largely automates the in silico analyses behind whole-genome resequencing. Starting with next-generation sequencing reads, PALEOMIX carries out adapter removal, mapping against reference genomes, PCR duplicate removal, characterization of and compensation for postmortem damage, SNP calling and maximum-likelihood phylogenomic inference, and it profiles the metagenomic contents of the samples. As such, PALEOMIX allows for a series of potential applications in paleogenomics, comparative genomics and metagenomics. Applying the PALEOMIX pipeline to the three ancient and seven modern Phytophthora infestans genomes as described here takes 5 d using a 16-core server.

摘要

下一代测序技术彻底改变了古基因组学领域,使得重建完整的古代基因组并与现代参考进行比较成为可能。然而,这需要处理大量的数据,并涉及到大量使用各种计算工具的步骤。在这里,我们介绍 PALEOMIX(http://geogenetics.ku.dk/publications/paleomix),这是一个适用于现代和古代基因组的灵活且用户友好的管道,它在很大程度上实现了全基因组重测序背后的计算分析自动化。从下一代测序读取开始,PALEOMIX 进行接头去除、与参考基因组比对、PCR 重复去除、死后损伤的特征描述和补偿、SNP 调用和最大似然系统发育推断,并对样本的宏基因组内容进行分析。因此,PALEOMIX 允许在古基因组学、比较基因组学和宏基因组学中进行一系列潜在的应用。使用 16 核服务器,按照此处所述,应用 PALEOMIX 管道处理三个古老和七个现代 Phytophthora infestans 基因组需要 5 天时间。

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