Cancer Bioinformatics: Data analysis and method development for the Yale Cancer Center

摘要 生物信息学技能和工具对于分析生物信息学产生的大量数据至关重要 下一代测序 (NGS) 已成为深入了解的一个不可或缺的领域 癌症生物学。虽然生成 NGS 数据的实验室协议已变得更加 由于标准化，研究人员发现很难将生物信息数据分析的专业知识带入他们的研究中 练习。耶鲁大学癌症中心 (YCC)，NCI 指定的 51 个综合癌症中心之一 全国中心，旨在了解和预防癌症、及早发现癌症并进行管理 癌症治疗更加准确有效。 YCC 致力于通过以下方式实现这些目标 支持旨在实现突破的合作研究和教育活动 发现并培训癌症科学和医学领域的未来领导者。 YCC 支持并 管理共享资源，提供独特的专业知识和支持技术，丰富 确定 YCC 每个研究项目的范围并加快其进展。作为副主任 耶鲁大学基因组分析中心 (YCGA) 生物信息学系，YCC 共享中心之一 资源，我为YCC建立了生物信息学分析服务，目标是带来 生物信息学和 NGS 专业知识更接近癌症研究人员。我的生物信息学工作 过去 9 年他们专注于三个领域：1）提供完整的“设计到出版” 生物信息学支持； 2) 促进获得新的基因组技术并开发/构建新的基因组技术 实现尖端基因组学的分析流程； 3）提供培训和教育 通过指导、研讨会和讲习班进行癌症生物信息学。我带来了这样的 为 78 个实验室的 300 多个项目提供专业知识，开发了新的数据分析管道 并启用了新的 NGS 应用程序，并培训了许多学生和研究人员成为 精通自己的生物信息学分析。在 YCC 工作期间，我与人合着了 YCC 研究人员在领先科学期刊上发表了超过 28 篇论文，涉及不同领域 对不同技术、癌症类型和生物体的分析。 R50奖的支持 将使我能够继续开发和使用生物信息学工具来提高进展和 癌症研究的范围，并为 YCC 研究人员提供更广泛的访问和培训。

ABSTRACT Bioinformatics skills and tools are critical for the analyses of vast amount of data generated by Next-Generation Sequencing (NGS) and have become an integral field for gaining insight into cancer biology. While laboratory protocols to generate NGS data have become more standardized, researchers find it difficult to bring expertise in bioinformatic data analysis into their practice. The Yale Cancer Center (YCC), one of the 51 NCI-Designated Comprehensive Cancer Centers in the nation, aims to understand and prevent cancer, detect cancer early, and manage cancer treatments more accurately and effectively. YCC is committed to fulfilling these goals by supporting collaborative research and education activities aimed at achieving breakthrough discoveries and training future leaders in cancer science and medicine. The YCC supports and manages Shared Resources that provide unique expertise and enabling technologies that enrich the scope and expedite progress for each of the YCC research programs. As Associate Director of Bioinformatics at the Yale Center for Genome Analysis (YCGA), one of the YCC Shared Resources, I established the bioinformatics analysis services for the YCC with the goal of bringing bioinformatics and NGS expertise closer to the cancer investigators. My bioinformatics work with them for the last 9 years has focused on three areas: 1) providing full “design-to-publication” bioinformatics support; 2) facilitating access to new genomic technologies and develop/build new analytical pipelines to enable cutting edge genomics; and 3) providing training and education in cancer bioinformatics through mentoring, seminars, and workshops. I have brought such expertise to over 300 projects for 78 laboratories, have developed new data analysis pipelines and enabled new NGS applications, and have trained many students and researchers to become proficient in their own bioinformatics analyses. During my work for the YCC, I have co-authored over 28 publications in leading scientific journals with YCC investigators, involving a diverse set of analysis for different techniques, cancer types, and organisms. The support of the R50 award will allow me to continue to develop and use bioinformatics tools to increase the progress and scope of cancer research and provide broader access and training to YCC researchers.