Accelerating biology research with a bench-top next-generation sequencer

生命系统赖以生长、与环境互动并传递给后代的核心信息集是在DNA中编码的。最近的技术进步使组成生物体整个代码(基因组)的数百万到数十亿个核苷酸得以完全测序，并极大地加速了生物学家可以解决的问题类型。例如，现在可以直接读出导致有利作物性状的DNA变异，延长果蝇和蠕虫的寿命，甚至导致人类癌症的突变。事实上，测序已经变得如此强大，以至于生物学的几乎所有领域都在例行地使用它来对DNA和RNA进行测序，以提出数百个问题，这些问题在五年前是不可想象的。大多数研究人员已经确定的测序技术是由Illumina制造的。他们销售的仪器有各种大小，但都产生相同类型的测序数据(即数据在分析阶段都是兼容的)，它们的吞吐量只是不同。最昂贵的选项具有最高的吞吐量，这些选项往往会聚集在大型基因组中心。最小、最便宜的Illumina仪器是MiSeq。尽管拥有最低的吞吐量，但它的优势是能够以快速(24小时)的周转时间实现负担得起的测序，并产生比其他Illumina测序仪更长的读数，同时产生足以满足许多应用的可观的吞吐量。该部门。女王学院的生物系也开始利用这些测序技术。需求很高；在这项提案的10名调查人员中，我们已经确定了数十项应用程序，这些应用程序将在未来5年内培训100多名HQP。MiSeq将实现快速和负担得起的测序，并将有助于解决各种主题，包括：多样性的起源和范围限制的进化、人类疾病、表观遗传学、测序方法的发展、发育的进化和遗传学、生殖、衰老、气候变化的元基因组学、鸟类的适应和多样化、代谢基因的基因表达以及农业基因组学。

The core set of information that living systems rely upon to grow, interact with their environment, and pass on to future generations is encoded in DNA. Recent advances in technologies have enabled the complete sequencing of the millions to billions of nucleotides that make up the entire code (genome) of an organism and have drastically accelerated the types of questions that biologists can address. For example, it is now possible to directly read out DNA variants that cause favourable crop traits, extended life-span in fruit flies and worms, or even mutations that cause cancer in humans. In fact, sequencing has become so powerful that nearly all areas of biology are routinely using it to sequence DNA as well as RNA to ask hundreds of questions that just five years ago were unthinkable. The sequencing technology that most researchers have settled on is manufactured by Illumina. The instruments they sell come in a variety of sizes but all produce the same type of sequencing data (i.e. data are all compatible at the analysis stages), they simply vary in their throughput. The most expensive options have the highest throughput and these tend to populate large genome centers. The smallest and cheapest Illumina instrument is the MiSeq. Despite having the lowest throughput, it has the advantage of enabling affordable sequencing with a rapid (24 hour) turnaround time and generates reads that are longer than other Illumina sequencers while yielding a respectable throughput sufficient for many applications. The Dept. of Biology at Queen's has also begun to take advantage of these sequencing technologies. The demand is high; among the 10 investigators on this proposal, we have identified several dozen applications that will benefit training of over 100 HQP over the next 5 years. A MiSeq will enable rapid and affordable sequencing and will facilitate addressing diverse topics, including: origins of diversity and evolution of range limits, human disorders, epigenetics, sequencing methods development, evolution and genetics of development, reproduction, ageing, metagenomics of climate change, adaptation and diversification in birds, gene expression of metabolic genes, and agricultural genomics.