Acquisition for Illumina HiSeq 2500

描述(由申请人提供)：新的DNA测序技术的引入为具有突破性发现潜力的创造性应用提供了一个特殊的机会。要求为太平洋生物系统(PacBio)测序仪提供资金。最新可用的PacBio第三代测序技术将设在康奈尔大学生命科学核心实验室中心(CLC)。CLC在运行下一代测序仪器系统以及提供广泛的下一代测序应用作为核心设施服务方面拥有丰富的经验。CLC目前拥有一个罗氏454GS FLX，两个Illumina GAIIx单元和一个Illumina HiSeq 2000测序平台。很明显，康奈尔大学需要一台PacBio仪器。这份申请描述了来自21个NIH资助的研究小组的24个项目，这些项目将使用该仪器。PacBio将以多学科、多核心的方式运作，包括来自CLC高级技术评估、基因组学、表观基因组学、生物信息学和生物信息技术核心资源的支持。在核心设施中实施PacBio作为大学范围内共享的研究资源，将使人们能够以经济高效的方式获得这项至关重要的新技术。PacBio仪器系统允许单分子实时测序。该系统包括高通量样品制备、序列检测、数据处理和组装。目前还没有其他可用的仪器可以与PacBio读取长度长、吞吐量快和每次运行成本低的可比组合进行测序。PacBio的应用包括较小规模基因组的从头组装，仅使用短读技术无法解决的较大基因组的杂交从头组装和重新测序组装，罕见突变(SNP)检测，结构变异的表征，以及使用cDNA文库进行基因表达和整个转录本测序。PacBio正在开发的应用包括通过测量聚合酶动力学直接检测DNA甲基化、直接RNA测序、直接检测RNA修饰(如RNA甲基化)以及对核糖体和剪接体等大分子复合体的高分辨率研究。这些应用是PacBio技术的独特功能。PacBio技术将使使用其他现有测序仪器进行不切实际或不可能进行的实验成为可能。该工具将促进康奈尔大学目前和未来由NIH资助的广泛项目。

DESCRIPTION (provided by applicant): The introduction of new DNA sequencing technologies presents an exceptional opportunity for creative applications with potential for breakthrough discoveries. Funding is requested for a Pacific Biosystems (PacBio) sequencing instrument. The newly available PacBio third generation sequencing technology will be located in the Cornell University Life Sciences Core Laboratories Center (CLC). The CLC has extensive experience in running next generation sequencing instrument systems and in providing a wide range of next generation sequencing applications as core facility services. The CLC currently has a Roche 454 GS FLX, two Illumina GAIIx units and an Illumina HiSeq 2000 sequencing platform. There is a clear need for a PacBio instrument to be placed at Cornell. This application describes 24 projects from 21 NIH funded investigator groups that will utilize the instrument. The PacBio will be operated with a multidisciplinary, multi-core approach, including support from the CLC advanced technology assessment, genomics, epigenomics, bioinformatics, and bio-IT core resources. Implementation of the PacBio in a core facility as a university-wide shared research resource will enable cost effective access to this vital new technology. The PacBio instrument system allows single molecule real time sequencing. The system includes high throughput sample preparation, sequence detection, data processing, and assembly. There is no other instrument currently available that can sequence with a comparable combination of PacBio long read lengths, fast throughput, and low cost per run. PacBio applications include de novo assembly of smaller scale genomes, hybrid de novo and resequencing assembly of larger genomes that cannot be solved using short- read technologies alone, rare mutation (SNP) detection, characterization of structural variation, and gene expression and whole transcripts sequencing using cDNA libraries. PacBio applications under development include direct detection of DNA methylation by measuring polymerase kinetics, direct RNA sequencing, direct detection of RNA modifications such as RNA methylation, and high-resolution studies of macromolecular complexes like the ribosome and the spliceosome,. These applications are unique features of the PacBio technology. The PacBio technology will make possible experiments that are impractical or impossible with other available sequencing instruments. The instrument will facilitate a broad range of current and future NIH funded projects at Cornell University.