NEXT GENERATION SEQUENCING

为了保持和巩固悉尼基梅尔综合癌症中心（SKCCC）在癌症遗传学和表观遗传学领域的卓越记录，SKCCC于2009年1月建立了新的下一代测序核心（NGSC）作为共享资源。它是分子生物学、工程学、计算机科学和生物信息学的融合产物。下一代测序的特点是能够在单次运行中对数十亿个DNA碱基对进行测序，其成本比以前的金标准测序技术低几个数量级。下一代测序是一项非常通用的技术，可用于以以前难以想象的全基因组和公正的方式调查众多基因组过程。为了促进这项相对较新的技术的广泛采用，核心不是作为一个“黑匣子”设施来管理，而是作为一个“协作核心”来运作，用户可以与NGSC的教职员工进行咨询和合作，以便：1)确定最佳的分子生物学方法（在测序文库构建之前），将他们的研究问题与Core的功能联系起来，2)准备适当的文库并进行大规模平行测序，3)进行适当的一级、二级和三级生物信息学分析，以分析和解释结果。NGSC具有应用生物系统公司的下一代测序仪器，能够在单次运行中产生近100千兆字节的测序数据，最先进的测序库准备和质量控制设备，以及强大的计算资源，包括带有十个计算节点的服务器（每个节点包含四核英特尔至强处理器和16千兆字节的内存）和100太字节的专用生物信息学分析存储。核心目前由一名指导所有活动的教务主任、一名指导生物信息学支持的教务联合主任、一名实验室经理和一名生物信息学经理管理。核心的目标是尽可能灵活地协助研究人员探索癌症遗传学和表观遗传学的各个方面，包括但不限于生殖系和体细胞变异/突变、基因组结构变异/改变、转录组分析、转录因子结合位点、染色质修饰和DNA甲基化。Lay：下一代测序核心提供尖端的服务，利用最新的技术进步，以比以前的测序技术低10万倍的成本，允许对数亿个DNA分子进行大规模的基因组测序。这些服务有望迅速加快癌症分子遗传学研究的发现和临床转化的步伐。SKCCC托管共享资源

To maintain and build on the Sidney Kimmel Comprehensive Cancer Centers (SKCCC) record of excellence in the fields of cancer genetics and epigenetics, the SKCCC established a new Next Generation Sequencing Core (NGSC) as a shared resource in January 2009. A product of a convergence of advances in molecular biology, engineering, computer science, and bioinformatics. Next Generation Sequencing features the ability to sequence billions of base pairs of DNA in a single run, at a cost that is several orders of magnitude less than previous gold standard sequencing technologies. Next Generation Sequencing is an extremely versatile technology and can be used to investigate a multitude of genomic processes in a previously unimaginable genome-wide and unbiased fashion. In order to facilitate widespread adoption of this relatively new technology, rather than administering the Core as a "black-box" facility, the Core operates as a "collaborative Core" in which users can consult and collaborate with NGSC faculty and staff to: 1) identify the optimal molecular biology approaches (prior to sequencing library construction) to synapse their research questions with the capabilities of the Core, 2) prepare the appropriate libraries and carry out massively parallel sequencing, and 3) carry out the appropriate primary, secondary, and tertiary bioinformatics analyses to analyze and interpret the results. The NGSC features Applied Biosystems SOUD Next Generation Sequencing instruments capable of generating nearly 100 Gigabases of sequencing data in a single run, state-of-the-art equipment for sequencing library preparation and quality control, and powerful computational resources including a server with ten compute nodes (each containing Quad Core Intel Xeon processors and 16 Gigabytes of memory) and 100 terabytes of storage for dedicated bioinformatics analyses. The Core is currently administered by a faculty director overseeing all activities, a faculty Co-Director overseeing bioinformatics support, a laboratory manager, and a bioinformatics manager. The Core's goal is to be as flexible as possible in assisting researchers in exploring all aspects of cancer genetics and epigenetics, including, but not limited to, germline and somatic variation/mutation, genomic structural variations/alterations, transcriptome analysis, transcription factor binding sites, chromatin modifications, and DNA methylation. Lay: The Next Generation Sequencing Core provides cutting edge services that harness the most recent technological advances to allow large scale genomic sequencing of many hundreds of millions of DNA molecules in parallel at about 100,000 times less cost than previous sequencing technologies. These services are poised to rapidly accelerate the pace of discovery and clinical translation in cancer molecular genetics research. SKCCC Managed Shared Resource