Genetic architecture of quantitative traits and complex diseases
Genetic architecture of quantitative traits and complex diseases
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DOI：
10.1016/j.gde.2013.10.008
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发表时间：
2013-12-01
影响因子：
4
通讯作者：
Akey, Joshua M.
中科院分区：
文献类型：
--
作者：
Fu, Wenqing;O'Connor, Timothy D.;Akey, Joshua M.
在孟德尔发现遗传规律150多年后，表型变异的遗传结构仍然难以捉摸。在这里，我们讨论在破译基因类型如何映射到表型、遗传复杂性的来源以及模式生物如何阐明关于遗传和表型变异之间关系的一般原则方面的最新进展。此外，我们强调从人类大规模测序研究中收集的见解，以及这些知识如何为有关数量性状和复杂疾病的遗传结构的突出问题提供信息。最后，我们阐明了能够实现全基因组测序、全面的表型鉴定和高通量多态功能分析的技术的融合将如何促进对表型变异的遗传结构的更原则性和机械性的理解。
More than 150 years after Mendel discovered the laws of heredity, the genetic architecture of phenotypic variation remains elusive. Here, we discuss recent progress in deciphering how genotypes map onto phenotypes, sources of genetic complexity, and how model organisms are illuminating general principles about the relationship between genetic and phenotypic variation. Moreover, we highlight insights gleaned from large-scale sequencing studies in humans, and how this knowledge informs outstanding questions about the genetic architecture of quantitative traits and complex diseases. Finally, we articulate how the confluence of technologies enabling whole-genome sequencing, comprehensive phenotyping, and high-throughput functional assays of polymorphisms will facilitate a more principled and mechanistic understanding of the genetic architecture of phenotypic variation.