Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Anim Genet. 2010 Dec;41(6):561-9. doi: 10.1111/j.1365-2052.2010.02057.x.
Next generation sequencing (NGS) has revolutionized genomics research, making it difficult to overstate its impact on studies of Biology. NGS will immediately allow researchers working in non-mainstream species to obtain complete genomes together with a comprehensive catalogue of variants. In addition, RNA-seq will be a decisive way to annotate genes that cannot be predicted purely by computational or comparative approaches. Future applications include whole genome sequence association studies, as opposed to classical SNP-based association, and implementing this new source of information into breeding programmes. For these purposes, one of the main advantages of sequencing vs. genotyping is the possibility of identifying copy number variants. Currently, experimental design is a topic of utmost interest, and here we discuss some of the options available, including pools and reduced representation libraries. Although bioinformatics is still an important bottleneck, this limitation is only transient and should not deter animal geneticists from embracing these technologies.
下一代测序 (NGS) 彻底改变了基因组学研究，对生物学研究的影响之大，怎么强调都不为过。NGS 将立即让从事非主流物种研究的研究人员能够获得完整的基因组，以及全面的变异目录。此外，RNA-seq 将是注释仅凭计算或比较方法无法预测的基因的决定性方法。未来的应用包括全基因组序列关联研究，而不是基于经典 SNP 的关联，并将这种新的信息来源纳入育种计划。为此，测序与基因分型相比的主要优势之一是能够识别拷贝数变异。目前，实验设计是一个最受关注的话题，在这里我们讨论了一些可用的选项，包括池和简化的代表性文库。尽管生物信息学仍然是一个重要的瓶颈，但这种限制只是暂时的，不应阻止动物遗传学家接受这些技术。
