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Population-Sequencing as a Biomarker for Sample Characterization

机译:群体测序作为样品表征的生物标记

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Sequencing is accepted as the “gold” standard for genetic analysis and continues to be used as a validation and reference tool. The idea of using sequence analysis directly for sample characterization has been met with skepticism. However, herein, utility of direct use of sequencing to identify multiple genomes present in samples is presented and reviewed. All samples and “pure” isolates are populations of genomes. Population-Sequencing is the use of probabilistic matching tools in combination with large volumes of sequence information to identify genomes present, based on DNA analysis across entire genomes to determine genome assignments, to calculate confidence scores of major and minor genome content. Accurate genome identification from mixtures without culture purification steps can achieve phylogenetic classification by direct analysis of millions of DNA fragments. Genome sequencing data of mixtures can function as biomarkers for use to interrogate genetic content of samples and to establish a sample profile, inclusive of major and minor genome components, drill down to identify rare SNP and mutation events, compare relatedness of genetic content between samples, profile-to-profile, and provide a probabilistic or statistical scoring confidence for sample characterization and attribution. The application of Population-Sequencing will facilitate sample characterization and genome identification strategies.
机译:测序被认为是遗传分析的“黄金”标准,并继续用作验证和参考工具。将序列分析直接用于样品表征的想法遭到怀疑。然而,本文提出并综述了直接使用测序来鉴定样品中存在的多个基因组的效用。所有样品和“纯”分离株均为基因组种群。人口测序是将概率匹配工具与大量序列信息结合使用,基于对整个基因组的DNA分析来确定基因组分配,从而确定存在的基因组,从而计算主要和次要基因组含量的置信度得分。无需培养纯化步骤即可从混合物中准确鉴定基因组,可通过直接分析数百万个DNA片段来实现系统发育分类。混合物的基因组测序数据可以用作生物标志物,用于询问样品的遗传含量并建立样品图谱,包括主要和次要的基因组成分,向下钻取以识别罕见的SNP和突变事件,比较样品之间遗传含量的相关性,配置文件之间的配置文件,并提供概率或统计评分的置信度,以进行样品表征和归因。人口测序的应用将有助于样品表征和基因组鉴定策略。

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