Core 4 - Genome Sequencing Core

项目摘要-核心4基因组测序核心Dana-Farber癌症研究所 全基因组测序特别是单细胞水平的测序是一项需要专业知识的专门功能，特别是 仪器和设施以及信息学能力。此功能不能单独执行 实验室。单细胞测序也在快速进化，不断提高信息能力， 每次运行的样本数和每个细胞的数据形态。可用的设施数量有限 在全球范围内拥有这样的能力来继续创新。达纳·法伯/哈佛癌症中心(DF/HCC)是 美国主要中心对数量可观的癌症基因组进行测序。DFCI致力于继续 评估新的测序技术，尽可能使用内部测试，并将使用任何未来 技术是最适合和最具成本效益的应用程序的科学追求在 研究所。核心4的目的是通过利用状态来提供全面的基因组序列分析 用于测序全基因组、靶区、 甲基化区域、循环细胞和单细胞以及基因组的鉴定和表征- 在所有项目中详细说明的样本中有广泛的体细胞变化。我们还开发和标准化了单人 适用于各种平台的细胞和批量测序。为了实现这些目标，我们将进行全基因组测序 和酶甲基化测序以产生全基因组的体细胞改变和甲基化改变 利用来自IFM/DFCI 2009和2020-02的简化分析管道，在诊断时和何时研究样本 可用于复发(特定目标1)；并从以下来源生成单细胞全基因组和靶向测序数据 选择系列样本以探索MM进化过程中的克隆变化(特定目标2)。此外，核心将 在管理和分析核心内产生的数据方面提供生物信息学专业知识，以支持 项目。

Project Summary – Core 4 – Genome Sequencing Core Dana-Farber Cancer Institute Whole genome sequencing especially at single cell level is a specialized function requiring expertise, special instruments and facilities along with informatics capabilities. This function cannot be performed in individual laboratories. Single cell sequencing is also evolving rapidly and constantly improving the information capabilities, number of samples per run and data modalities per cell. There is only limited number of facilities available worldwide with such capabilities to continue to innovate. Dana Farber/Harvard Cancer Center (DF/HCC) is a major center in the US sequencing significant number of cancer genomes. DFCI is committed to continually appraising new sequencing technologies, using in-house testing wherever possible, and will use whatever future technology is most suitable and cost-effective for the applications demanded by the science pursued at the Institute. The purpose of Core 4 is to provide for comprehensive genomic sequence analyses by utilizing a state of the art ‘next generation’ sequencing platform for the sequencing of whole genome, targeted regions, methylated regions, circulating cells as well as single cells and the identification and characterization of genome- wide somatic alterations in samples detailed in all projects. We have also developed and standardized single cell and bulk sequencing for various platforms. To meet these goals we will perform whole genome sequencing and enzymatic methylation sequencing to generate genome wide somatic alterations and methylation changes with streamlined analysis pipeline from IFM/DFCI 2009 and 2020-02 study samples at diagnosis and when available at relapse (Specific Aim 1); and generate single-cell whole genome and targeted sequencing data from selected serial samples to explore clonal changes during MM evolution (Specific Aim 2). Further, the core will provide bioinformatics expertise in the management and analysis of data produced within the core to support the projects.