Whole Genome Sequencing Analysis: Comprehensive Capture of Genetic Variants

哈佛大学公共卫生学院数量基因组学(PQG)计划将于2016年11月3日至4日在马萨诸塞州波士顿哈佛医学院约瑟夫·B·马丁会议中心举办2016年的会议--“全基因组测序分析：全面捕获基因变异”。这是关于遗传学和基因组学中新出现的统计和计算问题的非常成功的系列会议中的第十次。关于人类基因组的海量信息，包括全基因组测序数据，在数据处理、集成、分析和结果解释方面提出了非凡的挑战。通过国家人类基因组研究所的基因组测序计划、国家心肺血液研究所的TopMED计划和精密医学倡议，社区正在生成大量的全基因组测序(WGS)样本。WGS数据的分析需要统计遗传学和基因组学、计算生物学和种群遗传学的结合，而现有的统计和计算技术并不直接适用。迫切需要在科学探索的前沿讨论新出现的量化问题，并促进开发用于分析海量全基因组测序数据的创新和可扩展的统计和计算方法。会议对整个研究界开放，特别鼓励初级教员和研究人员、博士后研究员、学生以及妇女和少数族裔的参与。与会者将讨论和批评现有的量化方法，深入讨论新出现的统计和量化问题，并确定未来在分析世界地质小组数据方面研究的优先事项。提交的研究成果将在科学期刊和网站的出版物中广泛传播。会议将集中讨论以下三个在全基因组测序分析中至关重要的主题：(1)基因组学路径；(2)扩大表型；(3)群体遗传学的新视野。第一个主题讨论了通过结合功能和调控信息进行稀有变异分析的统计和计算方法。第二个主题讨论分析多个表型以增强关联的能力，并了解不同表型如何在遗传上相关并揭示因果关系。第三个主题讨论了人口遗传学的新机遇，以及利用这一知识理解人类疾病生物学和病因学。会议的一个主要特点是为跨学科的高级和初级研究人员提供一个及时和互动的平台，包括统计遗传学家、计算生物学家、种群遗传学家、遗传流行病学家、分子生物学家和临床科学家，讨论WGS数据的这些分析挑战。欲了解更多信息，请访问https://www.hsph.harvard.edu/2016-pqg-conference/。

The Program in Quantitative Genomics (PQG) at Harvard T.H. Chan School of Public Health is hosting the 2016 conference, "Whole Genome Sequencing Analysis: Comprehensive Capture of Genetic Variants", to be held November 3-4, 2016 at the Joseph B. Martin Conference Center at Harvard Medical School in Boston, MA. This is the tenth in a very successful conference series on emerging statistical and computational issues in genetics and genomics. The explosion of massive information about the human genome, including Whole Genome Sequencing data, presents extraordinary challenges in data processing, integration, analysis, and interpretation of results. A large number of Whole Genome Sequencing (WGS) samples are being generated by the community through the Genome Sequencing Program of the National Human Genome Research Institute, the TopMED Program of the National Heart, Lung and Blood Institute, and the Precision Medicine Initiative. Analysis of WGS data requires integration of statistical genetics and genomics, computational biology and population genetics, and existing statistical and computational techniques are not directly applicable. There is a critical need to discuss emerging quantitative issues at the forefront of scientific exploration, and to promote the development of innovative and scalable statistical and computational methods for analyzing massive whole genome sequencing data. The conference is open to the whole research community and particularly encourages participation of junior faculty and researchers, postdoctoral fellows, students, and women and minorities. The participants will discuss and critique existing quantitative methods, discuss in-depth emerging statistical and quantitative issues, and identify priorities for future research in the analysis of WGS data. The research presented will be broadly disseminated in publications in scientific journals and websites. The conference will focus on the following three topics of critical importance in whole genome sequencing analysis: (1) path to genomics; (2) scaling up phenotypes; (3) new horizons in population genetics. The first topic discusses statistical and computational methods for rare variant analysis by incorporating functional and regulatory information. The second topic discusses analysis of multiple phenotypes to boost the power for association, and to understand how different phenotypes relate genetically and reveal causal pathways. The third topic discusses new opportunities in population genetics, and the use of this knowledge in understanding human disease biology and etiology. A key feature of the conference is to provide a timely and interactive platform for cross-disciplinary senior and junior investigators, including statistical geneticists, computational biologists, population geneticists, genetic epidemiologists, molecular biologists, and clinical scientists, to discuss these analytic challenges for WGS data. For more information, visit https://www.hsph.harvard.edu/2016-pqg-conference/ .