Genomics in the post-GWAS era.

Genomics in the post-GWAS era.
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DOI:
10.1055/s-0031-1276641
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发表时间:
2011-05
影响因子:
4.2
通讯作者:
Lazaridis KN
Lazaridis KN
中科院分区:
医学2区
文献类型:
--
作者:
Juran BD;Lazaridis KN

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基因组学领域已经进入了一个新时代,在这个新时代中,使用全基因组方法以无偏见的方式鉴定影响复杂人类特征和疾病的遗传变异的能力是广泛可及的。到目前为止,这些努力的主力一直是全基因组关联研究(GWAS),它已经迅速从新颖转变为常规,并为复杂性状的潜在等位基因结构方面提供了关键见解。从早期的GWAS工作中吸取的主要教训是,尽管经常发现许多疾病相关的变异,但大多数对疾病的影响很小,总体上只能解释一小部分明显的遗传性。在这里,我们提供了一个简要概述的遗传变异类,可能窝藏遗传性从GWAS失踪,并触及的方法,将在未来几年利用基因组学,并通过扩展医学变得越来越个性化。
The field of genomics has entered a new era in which the ability to identify genetic variants that impact complex human traits and disease in an unbiased fashion using genome-wide approaches is widely accessible. To date, the workhorse of these efforts has been the genome-wide association study (GWAS), which has quickly moved from novel to routine, and has provided key insights into aspects of the underlying allelic architecture of complex traits. The main lesson learned from the early GWAS efforts is that though many disease-associated variants are often discovered, most have only a minor effect on disease, and in total explain only a small amount of the apparent heritability. Here we provide a brief overview of the genetic variation classes that may harbor the heritability missing from GWAS, and touch on approaches that will be leveraged in the coming years as genomics—and by extension medicine—becomes increasingly personalized.
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