Drosophila population genomics

果蝇群体基因组学

• 批准号: 7254969
• 负责人: CHARLES HUNT LANGLEY
• 金额: $ 101.1万
• 依托单位: UNIVERSITY OF CALIFORNIA AT DAVIS
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-20 至 2008-12-08
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7254969
• 关键词: Address; Affect; Algorithms; Animal Model; Cloning; Collaborations; Communities; Complex; Computer software; Custom; DNA; DNA Resequencing; DNA Sequence; Daily; Data; Data Quality; Data Set; Detection; Development; Drosophila genome; Drosophila genus; Drosophila melanogaster; Foundations; Gel; Genetic Polymorphism; Genome; Genomic Segment; Genomics; Goals; Health; Human; Human Genome; Investigation; Label; Oligonucleotide Microarrays; Polymerase Chain Reaction; Population; Population Genetics; Preparation; Production; Protocols documentation; Research; Resources; Role; Scanning; Sequence Determination; Software Tools; Solid; Staging; Technology; Variant; autosome; design; disorder risk; instrumentation; tool; trait

DESCRIPTION (provided by applicant): The human genome is remarkably variable and understanding this variation is a vital component of promised advances in human health. Publicly available human and model organism reference genomic sequences provide a foundation for revolutionary advances in population genomics, the genomic-scale detection of DNA sequence variants and investigation of their role in affecting disease risk. However, even as the first population genomic data emerge, solid paradigms of description and analysis have not yet appeared. For example, integration of population genomic polymorphism and associated phenotypic variation into genomic annotations is an essential goal yet a daunting assignment. To directly address the basic challenge of population genomics we are proposing to begin an effort to obtain the complete sequence of 50 Drosophila melanogaster genomes. The Drosophila strains and their associated genomic polymorphisms will become objects of intense and diverse functional analyses and annotation. The goals of this proposal are (1) to develop and validate an appropriate resequencing technology, (2) to establish a sustainable, high quality resequencing capacity, and (3) to provide preliminary results and analysis that demonstrate the high added value of genomic coverage of population polymorphism.

描述（由申请人提供）： 人类基因组变化很大，了解这种变异是人类健康进步的重要组成部分。公开的人类和模式生物参考基因组序列为群体基因组学、DNA 序列变异的基因组规模检测以及它们在影响疾病风险中的作用的研究的革命性进展提供了基础。然而，即使第一个群体基因组数据出现，可靠的描述和分析范式还没有出现。例如，将群体基因组多态性和相关表型变异整合到基因组注释中是一个基本目标，但也是一项艰巨的任务。为了直接解决群体基因组学的基本挑战，我们建议开始努力获得 50 个果蝇基因组的完整序列。果蝇菌株及其相关的基因组多态性将成为密集且多样化的功能分析和注释的对象。该提案的目标是（1）开发和验证适当的重测序技术，（2）建立可持续的高质量重测序能力，以及（3）提供初步结果和分析，证明基因组覆盖的高附加值群体多态性。