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

生命系统赖以生长、与环境相互作用并传递给后代的核心信息集编码在DNA中。技术的最新进展使构成生物体整个代码（基因组）的数百万到数十亿个核苷酸的完整测序成为可能，并大大加快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、果蝇和蠕虫寿命延长甚至导致人类癌症的突变的DNA变异。事实上，测序已经变得如此强大，以至于几乎所有的生物学领域都在常规地使用它来测序DNA和RNA，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尺寸，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），它们只是在吞吐量上有所不同。最昂贵的选择具有最高的通量，并且这些倾向于填充大型基因组中心。最小和最便宜的Illumina仪器是MiSeq。尽管具有最低的吞吐量，但它的优点是能够以快速（24小时）的周转时间进行负担得起的测序，并产生比其他Illumina测序仪更长的读取，同时产生足以用于许多应用的可观的吞吐量。六处皇后学院生物学系也开始利用这些测序技术。要求高;在10名研究人员中，我们已经确定了几十项应用，这些应用将在未来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演变，人类疾病，表观遗传学，测序方法的发展，发展的进化和遗传学，生殖，衰老，气候变化的宏基因组学，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.