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Sequencing primate genomes: what have we learned?
Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2009-01-01 , DOI: 10.1146/annurev.genom.9.081307.164420
Tomas Marques-Bonet 1 , Oliver A Ryder , Evan E Eichler
Affiliation  

We summarize the progress in whole-genome sequencing and analyses of primate genomes. These emerging genome datasets have broadened our understanding of primate genome evolution revealing unexpected and complex patterns of evolutionary change. This includes the characterization of genome structural variation, episodic changes in the repeat landscape, differences in gene expression, new models regarding speciation, and the ephemeral nature of the recombination landscape. The functional characterization of genomic differences important in primate speciation and adaptation remains a significant challenge. Limited access to biological materials, the lack of detailed phenotypic data and the endangered status of many critical primate species have significantly attenuated research into the genetic basis of primate evolution. Next-generation sequencing technologies promise to greatly expand the number of available primate genome sequences; however, such draft genome sequences will likely miss critical genetic differences within complex genomic regions unless dedicated efforts are put forward to understand the full spectrum of genetic variation.

中文翻译:

灵长类动物基因组测序:我们学到了什么?

我们总结了全基因组测序和灵长类基因组分析的进展。这些新兴的基因组数据集拓宽了我们对灵长类动物基因组进化的理解,揭示了意想不到的复杂进化模式。这包括基因组结构变异的特征、重复景观的偶发性变化、基因表达的差异、关于物种形成的新模型以及重组景观的短暂性。在灵长类物种形成和适应中重要的基因组差异的功能表征仍然是一个重大挑战。获得生物材料的机会有限、缺乏详细的表型数据以及许多关键灵长类物种的濒危状态,大大削弱了对灵长类进化遗传基础的研究。下一代测序技术有望大大扩展可用的灵长类基因组序列的数量;然而,这样的基因组序列草图可能会错过复杂基因组区域内的关键遗传差异,除非付出专门的努力来了解全谱的遗传变异。
更新日期:2009-08-28
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