Pan-genomics in the human genome era.,Nature Reviews Genetics

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Pan-genomics in the human genome era.
Nature Reviews Genetics ( IF 39.1 ) Pub Date : 2020-02-07 , DOI: 10.1038/s41576-020-0210-7
Rachel M Sherman _{1,

2} , Steven L Salzberg _{1,

2,

3,

4}

Affiliation

Since the early days of the genome era, the scientific community has relied on a single 'reference' genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As sequencing costs have dropped, thousands of new genomes have been sequenced, and scientists have come to realize that a single reference genome is inadequate for many purposes. By sampling a diverse set of individuals, one can begin to assemble a pan-genome: a collection of all the DNA sequences that occur in a species. Here we review efforts to create pan-genomes for a range of species, from bacteria to humans, and we further consider the computational methods that have been proposed in order to capture, interpret and compare pan-genome data. As scientists continue to survey and catalogue the genomic variation across human populations and begin to assemble a human pan-genome, these efforts will increase our power to connect variation to human diversity, disease and beyond.

中文翻译：

人类基因组时代的泛基因组学。

自基因组时代早期以来，科学界一直依赖每个物种的单一“参考”基因组，该基因组被用作广泛遗传分析的基础，包括物种内和物种间变异的研究。随着测序成本的下降，数千个新基因组已被测序，科学家们逐渐意识到单个参考基因组不足以满足许多目的。通过对一组不同的个体进行采样，人们可以开始组装一个泛基因组：一个物种中出现的所有 DNA 序列的集合。在这里，我们回顾了为从细菌到人类的一系列物种创建泛基因组的努力，并进一步考虑了为捕获、解释和比较泛基因组数据而提出的计算方法。随着科学家们继续调查和编目人类群体的基因组变异，并开始组装人类泛基因组，这些努力将增强我们将变异与人类多样性、疾病等联系起来的能力。

更新日期：2020-02-07

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