Advanced Gene Mapping Course

高级基因作图课程

• 批准号: 9039649
• 负责人: SUZANNE M LEAL
• 金额: $ 5.4万
• 依托单位: ROCKEFELLER UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-04-01 至 2017-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9039649
• 关键词: Admixture; Area; Basic Science; Bioinformatics; Categories; Chromosome Mapping; Clinical; Complex; Computer software; Computers; Data; Data Analyses; Data Files; Data Quality; Detection; Development; Disease; Educational process of instructing; Etiology; Exercise; Family; Genes; Genetic; Genetic Epistasis; Genome; Genotype; Goals; Grant; Hand; Health; Human Gene Mapping; Internet; Knowledge; Lead; Libraries; Linux; Logistic Regressions; Memory; Meta-Analysis; Methods; Mutation; New York; Online Systems; Participant; Population; Population Control; Postdoctoral Fellow; Principal Component Analysis; Principal Investigator; Quality Control; Research; Research Personnel; Running; Sample Size; Sequence Analysis; Site; Students; System; Techniques; Training; Travel; Universities; Update; Variant; Waiting Lists; Wireless Technology; base; cost; experience; file format; genetic analysis; genetic epidemiology; genetic linkage analysis; genome sequencing; genome wide association study; human disease; laptop; lectures; meetings; next generation sequencing; population based; power analysis; pre-doctoral; programs; rare variant; theories; tool; trait; whole genome

DESCRIPTION (provided by applicant): The specific aim of this proposal is to carry out an annual, full week course in advanced gene mapping at The Rockefeller University in New York. The course is directed towards advanced researchers who are familiar with the basic aspects of statistical genetics but who need to become more proficient in the analysis of complex traits. The course will be held in Weiss Hall which is equipped with 34 laptops running Linux and windows. Travel stipends will be provided to seven of the participants who are either predoctoral students or postdoctoral fellows to cover the cost of airfare, hotel and board. The course consists of two components: lectures on important, current topics in gene mapping, as well as hands on exercises to be carried out with the latest software programs. The current emphasis of the course is association analysis of rare variants obtained from next generation sequence data. In the January 28February 1, 2013 Advanced Gene Mapping course topics will include: whole genome association analysis of quantitative and qualitative traits (population and family based data); association analysis of common (generated from genotyping arrays) and of rare (obtained from next generation sequence data) variants; data quality control for sequence and genotype data; functional prediction of variant sites, calling variants from sequence data, controlling for population substructure\admixture; data quality control (genotype and sequence data); imputation of data from genotypes (e.g. HapMap) and whole genome sequence data (e.g. 1000genomes); meta analysis; gene x gene interaction; sample size estimation and evaluating power (for rare and common variants). Programs that will be taught and utilized by course participants include: Armitage Power Tool, Eigenstrat, GenABEL, METAL, MINIMAC, Mutation Taster, PLINK, Polyphen2, PSEQ, QTDT, Quanto, R, RarePower, SIFT, SimRare UnMAKE, and variant association tool (VAT). Since gene mapping is a quickly changing field the topics and analytic programs will be updated and changed annually to reflect the latest developments in the field of statistical genetics. Given the large increases in the amount of genetic data being generated, and in particular sequence data, it is extremely important to train researchers and give them the necessary information and tools to analyze this data to bring about a better understanding of the etiology of complex traits.

描述（由申请人提供）：该提案的具体目标是在纽约洛克菲勒大学举办一年一度、为期一周的高级基因图谱课程。该课程面向熟悉统计遗传学基本方面但需要更加精通复杂性状分析的高级研究人员。课程将在 Weiss Hall 举行，该大厅配备 34 台运行 Linux 和 Windows 的笔记本电脑。 将为七名博士前学生或博士后研究员提供旅行津贴，以支付机票、酒店和膳食费用。 该课程由两部分组成：关于基因图谱中重要的当前主题的讲座，以及使用最新软件程序进行的实践练习。该课程当前的重点是从下一代序列数据获得的罕见变异的关联分析。 2013年1月28日-2月1日高级基因图谱课程主题将包括：全基因组定量和定性特征的关联分析（基于群体和家族的数据）；常见（从基因分型阵列生成）和罕见（从下一代序列数据获得）变异的关联分析；序列和基因型数据的数据质量控制；变异位点的功能预测，从序列数据中调用变异，控制群体亚结构\混合； 数据质量控制（基因型和序列数据）； 对基因型数据（例如 HapMap）和全基因组序列数据（例如 1000 个基因组）进行插补； 荟萃分析； 基因x基因相互作用；样本量估计和评估功效（针对罕见和常见变异）。课程参与者将教授和使用的程序包括：Armitage Power Tool、Eigenstrat、GenABEL、METAL、MINIMAC、Mutation Taster、PLINK、Polyphen2、PSEQ、QTDT、Quanto、R、RarePower、SIFT、SimRare UnMAKE 和变体关联工具（增值税）。由于基因图谱是一个快速变化的领域，因此主题和分析程序将每年更新和更改，以反映统计遗传学领域的最新发展。鉴于生成的遗传数据量（特别是序列数据）的大幅增加，培训研究人员并为他们提供必要的信息和工具来分析这些数据以更好地了解复杂性状的病因学非常重要。