Worley Kim C, Richards Stephen, Rogers Jeffrey
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, MS BCM226, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, MS BCM226, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
Exp Cell Res. 2017 Sep 15;358(2):433-438. doi: 10.1016/j.yexcr.2016.12.014. Epub 2016 Dec 23.
Genomic information has become a ubiquitous and almost essential aspect of biological research. Over the last 10-15 years, the cost of generating sequence data from DNA or RNA samples has dramatically declined and our ability to interpret those data increased just as remarkably. Although it is still possible for biologists to conduct interesting and valuable research on species for which genomic data are not available, the impact of having access to a high quality whole genome reference assembly for a given species is nothing short of transformational. Research on a species for which we have no DNA or RNA sequence data is restricted in fundamental ways. In contrast, even access to an initial draft quality genome (see below for definitions) opens a wide range of opportunities that are simply not available without that reference genome assembly. Although a complete discussion of the impact of genome sequencing and assembly is beyond the scope of this short paper, the goal of this review is to summarize the most common and highest impact contributions that whole genome sequencing and assembly has had on comparative and evolutionary biology.
基因组信息已成为生物学研究中无处不在且几乎不可或缺的一个方面。在过去10到15年里，从DNA或RNA样本生成序列数据的成本大幅下降，我们解读这些数据的能力也同样显著提高。虽然生物学家对那些没有基因组数据的物种进行有趣且有价值的研究仍是可能的，但对于某一特定物种而言，获得高质量的全基因组参考组装的影响堪称变革性的。对没有DNA或RNA序列数据的物种进行研究在根本上受到限制。相比之下，即使是获得一份初步草图质量的基因组（定义见下文），也会开启一系列在没有该参考基因组组装时根本无法获得的机会。虽然对基因组测序和组装的影响进行全面讨论超出了这篇短文的范围，但本综述的目的是总结全基因组测序和组装对比较生物学和进化生物学最常见且影响最大的贡献。
