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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Power Of Deep, All-exon Resequencing For Discovery Of Human Trait Genes
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Power Of Deep, All-exon Resequencing For Discovery Of Human Trait Genes

机译：深度全外显子测序技术可发现人类特质基因

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摘要

The ability to sequence cost-effectively all of the coding regions of a given individual genome is rapidly approaching, with the potential for whole-genome resequencing not far behind. Initiatives are currently underway to phenotype hundreds of thousands of individuals for major human traits. Here, we determine the power for de novo discovery of genes related to human traits by resequencing all human exons in a clinical population. We analyze the potential of the gene discovery strategy that combines multiple rare variants from the same gene and treats genes, rather than individual alleles, as the units for the association test. By using computer simulations based on deep resequencing data for the European population, we show that genes meaningfully affecting a human trait can be identified in an unbiased fashion, although large sample sizes would be required to achieve substantial power.
机译：具有成本效益的给定单个基因组所有编码区测序的能力正在迅速接近，全基因组重测序的潜力紧随其后。目前正在开展计划，以表彰成千上万的主要人类特征的个体。在这里，我们通过对临床人群中所有人类外显子进行重新测序，来确定从头发现与人类性状相关的基因的能力。我们分析了结合来自同一基因的多个罕见变体并将基因（而不是单个等位基因）作为关联测试单位的基因发现策略的潜力。通过使用基于针对欧洲人口的深度重测序数据的计算机模拟，我们显示出可以无偏见的方式识别出有意义地影响人类性状的基因，尽管需要大量的样本才能获得强大的功效。

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