Program in Molecular and Computation Biology, University of Southern California, Los Angeles 90089, United States.
Curr Opin Genet Dev. 2013 Dec;23(6):694-9. doi: 10.1016/j.gde.2013.10.002. Epub 2013 Nov 12.
Building the connection between genetic and phenotypic variation is an important 'work in progress', and one that will enable proactive diagnosis and treatment in medicine, promote development of environment-targeted varieties in agriculture, and clarify the limits of species adaptation to changing environments in conservation. Quantitative trait loci (QTL) mapping and genome wide association (GWA) studies have recently been allied to an additional focus on 'hitchhiking' (HH) mapping--using changes in allele frequency due to artificial or natural selection. This older technique has been popularized by the falling costs of high throughput sequencing. Initial HH-resequensing experiments seem to have found many thousands of polymorphisms responding to selection. We argue that this interpretation appears too optimistic, and that the data might in fact be more consistent with dozens, rather than thousands, of loci under selection. We propose several developments required for sensible data analyses that will fully realize the great power of the HH technique, and outline ways of moving forward.
建立遗传和表型变异之间的联系是一个重要的“正在进行的工作”,这将使医学能够主动诊断和治疗,促进农业中针对环境的品种的发展,并阐明保护中物种对环境变化的适应极限。数量性状位点(QTL)图谱和全基因组关联(GWA)研究最近与对“ hitchhiking ”(HH)图谱的额外关注相结合-利用由于人工或自然选择而导致的等位基因频率变化。这种较旧的技术因高通量测序成本的降低而得到普及。最初的 HH 重测序实验似乎已经发现了数千种对选择有反应的多态性。我们认为这种解释似乎过于乐观,实际上数据可能更符合数十个而不是数千个受选择的基因座。我们提出了进行明智数据分析所需的一些发展,这些发展将充分实现 HH 技术的巨大力量,并概述前进的方向。