Pacific Biosciences PacBio RS Single Molecule Real Time Sequencer

描述（由申请人提供）：太平洋生物科学公司的PacBio RS测序系统将用于高通量DNA测序，用于需要数万个碱基的远程序列信息的应用。该测序技术的技术和特点明显不同于其他测序方法。特别是，获得长序列读取的能力为许多应用提供了几个关键优势，包括(1)新基因组的测序，(2)缺乏测序或良好定位基因组的生物体的EST和转录组表征，(3)替代前mrna剪接的分析，(4)扩增子测序。除了更长的读取长度外，PacBio测序技术还提供了更快的周转时间。PacBio RS将应用于美国国立卫生研究院资助的各种项目以及与生物医学科学高度相关的其他项目，包括涉及感官知觉的多基因家族的表征；选择性前mrna剪接模式和机制的阐明；人类发育和疾病的遗传和进化模型的基因组特征；与癌症相关的基因位点分析；研究哺乳动物细胞对营养离子和环境毒素的敏感性。加州大学伯克利分校目前没有PacBio测序仪。拟议的仪器将作为科茨基因组测序中心的一部分靠近其用户，并作为统一的校园范围内测序核心设施和相关的计算基因组学资源实验室的一部分进行管理。获得该仪器将支持研究人员开展这些项目，这些项目有望阐明人类生物学和疾病的基本机制。

DESCRIPTION (provided by applicant): The Pacific Biosciences PacBio RS sequencing system will be used for high-throughput DNA sequencing in applications demanding long-range sequence information at the scale of tens of kilobases. The technology and characteristics of this sequencing technology are notably different than for other sequencing methodologies. In particular, the ability to obtain long sequence reads affords several critical advantages for a number of applications, including (1) the sequencing of novel genomes, (2) EST and transcriptome characterization in organisms lacking a sequenced or well-mapped genome, (3) the analysis of alternative pre-mRNA splicing, (4) amplicon sequencing. In addition to longer read lengths, the PacBio sequencing technology also provides rapid turnaround time. The PacBio RS will be applied to a diverse array of NIH-funded projects as well as other projects of high relevance to biomedical science, including the characterization of multigene families involved in sensory perception; the elucidation of the patterns and mechanisms of alternative pre-mRNA splicing; the characterization of genomes of genetic and evolutionary models of human development and disease; an analysis of the genetic loci associated with cancer; and an investigation of the susceptibility of mammalian cells to nutritional ions and environmental toxins. There are currently no PacBio sequencers on the UC Berkeley campus. The proposed instrument would be located close to its users as part of the Coates Genome Sequencing Center, and managed as part of the unified campus-wide sequencing core facility and associated Computational Genomics Resource Laboratory. Acquisition of this instrument will support researchers pursuing these projects, which promise to illuminate the fundamental mechanisms underlying human biology and disease.