Symposium on Advances in Genomics, Epidemiology, and Statistics (SAGES)

摘要 技术的进步和成本的显著降低正在推动基因组研究的进展。研究 大样本中复杂性状的全外显子组和基因组序列越来越常见。其他 高维信息的来源，包括表达、表观遗传、代谢和微生物组数据， 在疾病和健康样本中也被收集。为了充分理解人类疾病的复杂基础 和正常的表型变异，所有这些因素都应该在一个统一的分析中得到适当的考虑。 这一框架，以及关于环境暴露和其他风险因素的流行病学数据。讨论 为了解决这些数据来源所带来的分析挑战，我们每年都会制定一份 在费城宾夕法尼亚大学校园举行的研讨会，名为 基因组学，流行病学和统计学进展（SAGES）。我们的目标是促进 分析方法，以弥合基因组学和相关领域新兴技术与数据分析之间的差距 鼓励方法科学家和应用科学家之间的交流与合作; 通过让尽可能多的人参加我们的会议并促进对年轻研究人员的培训 他们的积极参与和与更高级的参与者的互动。SAGES已连续举办 自2013年以来，参与者人数不断增加，参与者满意度达到98.9% 的受访者在研讨会后的调查中强烈同意或同意“我喜欢参加 SAGES 2018”。我们建议在2019年和2020年继续这一成功的模式。每年我们都会选择一些主题， 在与基因组学和其他高维数据有关的统计和流行病学方法领域， 以及对研究的潜在影响。我们将邀请7位演讲者从专家中选出， 包括理论和应用科学家。将邀请与会者提交一份 摘要与他们的注册，和两个海报会议将允许他们提出自己目前的研究。 两篇由学生或博士后撰写的摘要将被选为口头报告。一场会前座谈会“遇见 为初级与会者举行的演讲者聚会和对所有与会者开放的最后招待会将鼓励 非正式的互动，目的是促进合作和确定可能的新导师-受训者 关系。超过78%的受访者在研讨会后的调查中强烈同意或赞同 声明“我通过参加SAGES 2018与同事建立了联系，这对我的工作很有价值”。我们 最终目标是促进培训、合作以及方法的开发和应用， 进一步加深了我们对人类疾病复杂机制的理解。

Abstract Advances in technology and significant decrease in costs are driving progress in genomic studies. Studies of whole exome and genome sequences of complex traits in large samples are increasingly common. Other sources of high-dimensional information, including expression, epigenetic, metabolic and microbiome data, are also being collected in disease and healthy samples. To fully understand the complex bases of human disease and normal phenotypic variability, all of these factors should be properly considered in a unified analytical framework, together with epidemiological data on environmental exposures and other risk factors. To discuss how to address the analytical challenges presented by these sources of data, we have developed an annual symposium held in Philadelphia on the campus of the University of Pennsylvania, named Symposium on Advances in Genomics, Epidemiology, and Statistics (SAGES). Our objectives are to favor development of analytical methods to bridge the gap between emerging technologies and data analysis in genomics and related fields; to encourage exchange and collaboration between methodological and applied scientists; and to foster training of young investigators by giving access to our conference to the largest possible number and promoting their active participation and interaction with the more senior participants. SAGES has been held continuously since 2013 and has enjoyed an increasing number of participants as well as participant satisfaction, with 98.9% of respondent to the post-symposium survey strongly agreeing or agreeing to the statement “I enjoyed attending SAGES 2018”. We propose to continue this successful formula in 2019 and 2020. Each year we will select topics in the area of statistical and epidemiological methods related to genomics and other high-dimensional data based on perceived interest and potential impact on research. We will invite 7 speakers chosen among experts working in US institutions, including both theoretical and applied scientists. Participants will be invited to submit an abstract with their registration, and two poster sessions will allow them to present their own current research. Two abstracts presented by students or post-docs will be selected for oral presentation. A pre-symposium “Meet the Speakers” get-together for junior attendees and a final reception open to all participants will encourage informal interactions, with the goal of facilitating collaborations and identification of possible new mentor-trainee relationships. More than 78% of respondent to the post-symposium survey strongly agreed or agreed with the statement “I made connections with colleagues by attending SAGES 2018 that are valuable for my work”. Our final goal is to promote training, collaboration, and the development and application of methodologies that will further our understanding of the complex mechanisms responsible for human disorders.