Bioinformatics and Biotechnology Shared Resource Core

项目概要/摘要-生物信息学和生物技术共享资源 生物信息学和生物技术共享资源（BBSR）的目标是提供最新的创新， 高通量生物技术和生物信息学方法和途径，以支持癌症研究， SJCCC成员。生物信息学团队通过利用SJCCC基因组分析提供专家数据分析 通过儿科癌症基因组计划开发和验证的基础设施。生物技术团队 通过使用3种互补的基因组分析技术， 平台：基因组测序、桑格测序和微阵列分析。BBSR由Dr. Jinghui Zhang（CBP），计算生物学系主任，拥有20多年的 在人类基因组遗传变异特征方面的研究经验。她在世界范围内被公认为 她在开发新算法、数据可视化和破译序列分析方面的专业知识- 儿科癌症的变异数据。她由杰弗里·尼尔博士协助，他负责管理和 对生物技术实验室进行科学监督。他拥有超过25年的科学经验， 使用分子技术进行儿科癌症的管理和调查。BBSR进一步配备了 由一组具有不同专业和领域知识的博士级专家科学家支持SJCCC 项目服务包括为最先进的分子分析提供技术和分析支持，例如next- 世代测序、微阵列、单细胞测序和CRISPR筛选，以及专家 咨询和咨询支持。BBSR对SJCCC研究的影响体现在 对出版物的贡献，许多在高影响力的期刊，如新英格兰医学杂志，自然， Nature Genetics，Cell，Lancet。在项目期间，BBSR支持了所有5个SJCCC项目， 共发表论文418篇，占本研究所发表论文总数的20.2%。 BBSR由65名SJCCC成员使用，其中70%（n=46）的成员具有癌症相关的同行评审 经费在下一个项目期间，BBSR将积极评估新技术和分析方法。新 将为SJCCC成员引入标准服务和技术，如Novaseq。我们还将 继续与SJCCC计划合作，建立新的分子分析技术，并寻求 生物信息学方法的发展，包括网络分析;长读技术（PacBio和 Oxford Nanapore）;来自10 X Genomics的单细胞RNA-Seq（DropSeq）和VDJ溶液;以及来自10 X Genomics的长距离 染色质相互作用测定（例如，Hi-C、HiChip和Capture-C）。最后，我们将继续部署工作流 到新建立的St. Jude Cloud平台，一个蓝天计划，提供实验室内的科学家 SJCCC和世界各地的直接访问复杂的生物信息学管道。

PROJECT SUMMARY/ABSTRACT—Bioinformatics and Biotechnology Shared Resource The goal of the Bioinformatics and Biotechnology Shared Resource (BBSR) is to provide the latest innovative, high-throughput biotechnology and bioinformatics methods and approaches to support the cancer research of SJCCC members. The Bioinformatics team provides expert data analysis by utilizing a SJCCC genomic-analysis infrastructure developed and validated through the Pediatric Cancer Genome Project. The Biotechnology team provides state-of-the-art high-throughput genomic assays of RNA and DNA samples by using 3 complementary platforms: genome sequencing, Sanger sequencing, and microarray analysis. The BBSR is directed by Dr. Jinghui Zhang (CBP), Chair of the Department of Computational Biology, who has more than 20 years of research experience in genetic variant characterization in the human genome. She is recognized worldwide for her expertise in the development of novel algorithms, data visualizations, and analyses for deciphering sequence- variation data in pediatric cancer. She is assisted by Dr. Geoffrey Neale, who is responsible for management and scientific oversight of the biotechnology laboratories. He has more than 25 years of experience in scientific management and the investigation of pediatric cancer using molecular techniques. The BBSR is further staffed by a group of PhD-level expert scientists with varied specialization and domain knowledge to support SJCCC projects. Services include technical and analytical support for state-of-the-art molecular profiling, such as next- generation sequencing, microarrays, single-cell sequencing, and CRISPR screening, as well as expert consultation and advisory support. The impact of the BBSR on SJCCC research is evidenced by the significant contribution to publications, many in high-impact journals such as the New England Journal of Medicine, Nature, Nature Genetics, Cell, and Lancet. During the project period, the BBSR supported all 5 SJCCC Programs, resulting in 418 publications, which represent 20.2% of the total publications from the SJCCC during this period. The BBSR was used by 65 SJCCC members, 70% (n=46) of whom have cancer-relevant, peer-reviewed funding. In the next project period, the BBSR will actively evaluate new technology and analytical methods. New standard services and technology, such as Novaseq, will be introduced for SJCCC members. We will also continue to work with the SJCCC Programs to establish new molecular-profiling technology and to pursue bioinformatics method development in areas including network analysis; long-read technology (PacBio and Oxford Nanapore); single-cell RNA-Seq (DropSeq) and VDJ solution from 10X Genomics; and long-range chromatin-interaction assays (eg., Hi-C, HiChip, and Capture-C). Finally, we will continue deploying workflows to the newly established St. Jude Cloud platform, a Blue Sky initiative, to provide bench scientists within the SJCCC and around the world with direct access to sophisticated bioinformatics pipelines.