Genome Geography A tool for connecting genes and other genomic features
基因组地理学 连接基因和其他基因组特征的工具
基本信息
- 批准号:8523850
- 负责人:
- 金额:$ 7.07万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2012
- 资助国家:美国
- 起止时间:2012-08-15 至 2015-07-31
- 项目状态:已结题
- 来源:
- 关键词:AccountingAreaBinding SitesBioinformaticsBiologicalCaringChromosomesCodeCommunitiesComplexComputer softwareDNA SequenceDNA Transposable ElementsDatabasesDiseaseElementsEnhancersEvolutionExonsFunctional RNAGenesGenomeGenomicsGeographyHeredityJunk DNAK-Series Research Career ProgramsKnowledgeLinkage DisequilibriumMapsMentorsMethodsMicroRNAsNational Institute of Diabetes and Digestive and Kidney DiseasesNucleic Acid Regulatory SequencesPhenotypePositioning AttributeProcessProteinsReproducibilityResearchResearch PersonnelResourcesRestRoleSingle Nucleotide Polymorphism MapStructural GenesVariantWorkcomputer based Semantic Analysisgenome analysisgenome wide association studyinterestmeetingspromoterrepositorytooltranscription factoruser-friendlyweb interface
项目摘要
DESCRIPTION (provided by applicant): As we accumulate knowledge, our understanding of the genome continues to evolve. We now realize that the 99% of the genome that does not code for proteins, what was once thought of as 'junk DNA', has important functional roles. This understanding has important implications in the analysis and interpretation of high dimensional genomics analysis. It is rare that a study is lucky enough to find significantly associated variant that lie within an exon of a protein coding gene that is biologically related to the phenotype. It s more common to identify a region of interest that is intergenic, or even in a gene desert. The implication of these associations is not directly obvious and often requires extensive bioinformatics analysis to even begin to understand the possible underlying biological mechanisms. To effectively capture our greater understanding of the relationship between coding and non-coding variants with complex disease, we must be able to accurately connect those variants with their biological annotations. This application proposes to build on my current K01 research of mapping SNPs to protein coding genes to capture these other features by accomplishing the following specific aims: Aim 1- Capturing non-protein coding 'genes'. In this aim we will identify non-protein coding genes and define their boundaries. Aim 2- Map variants in gene associated regions to the corresponding genes. Phenotypes are not controlled by genic sequences alone. In this aim we will identify and map the non-genic portions of the chromosome which can influence the expression of coding genes. Aim 3- Expanding beyond physical boundaries. Expanding feature boundaries to account for LD regions will allow for researchers to capture genomic features that would not be identified otherwise. It is vitaly important that any
bioinformatics workflow follows the principles of reproducible research, particularly when utilizing database driven resources. These aims will be accomplished by exploiting various database repositories and presenting the compiled information in a user friendly interface.
描述(由申请人提供):随着我们积累知识,我们对基因组的理解不断发展。我们现在意识到,99%的基因组不编码蛋白质,曾经被认为是“垃圾DNA”,具有重要的功能作用。这一认识对高维基因组学的分析和解释具有重要意义。很少有研究幸运地发现与表型生物学相关的蛋白质编码基因外显子内的显著相关变异。更常见的是识别基因间的感兴趣区域,甚至在基因沙漠中。这些关联的含义并不直接明显,往往需要广泛的生物信息学分析,甚至开始了解可能的潜在生物学机制。为了更好地理解编码和非编码变异与复杂疾病之间的关系,我们必须能够准确地将这些变异与它们的生物学注释联系起来。本申请提出建立在我目前的K 01研究的映射SNPs蛋白质编码基因,以捕捉这些其他功能,通过实现以下具体目标:目标1-捕捉非蛋白质编码的“基因”。在这个目标中,我们将确定非蛋白质编码基因,并确定其边界。目的2-将基因相关区域中的变体映射到相应的基因。表型不是由基因序列单独控制的。在这个目标中,我们将确定和映射的染色体的非基因部分,可以影响编码基因的表达。目标3-超越物理边界。扩展特征边界以考虑LD区域将允许研究人员捕获否则无法识别的基因组特征。重要的是,
生物信息学工作流程遵循可重复研究的原则,特别是在利用数据库驱动资源时。这些目标将通过利用各种数据库储存库和以用户友好的界面提供汇编的信息来实现。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
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Laura Kelly Vaughan其他文献
Laura Kelly Vaughan的其他文献
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{{ truncateString('Laura Kelly Vaughan', 18)}}的其他基金
Genome Geography A tool for connecting genes and other genomic features
基因组地理学 连接基因和其他基因组特征的工具
- 批准号:
8355678 - 财政年份:2012
- 资助金额:
$ 7.07万 - 项目类别:
Cluster Based Selection of Candidate Genes in Genome Wide Association Studies.
全基因组关联研究中候选基因的基于聚类的选择。
- 批准号:
8122169 - 财政年份:2008
- 资助金额:
$ 7.07万 - 项目类别:
Cluster Based Selection of Candidate Genes in Genome Wide Association Studies.
全基因组关联研究中候选基因的基于聚类的选择。
- 批准号:
7906635 - 财政年份:2008
- 资助金额:
$ 7.07万 - 项目类别:
Cluster Based Selection of Candidate Genes in Genome Wide Association Studies.
全基因组关联研究中候选基因的基于聚类的选择。
- 批准号:
7677397 - 财政年份:2008
- 资助金额:
$ 7.07万 - 项目类别:
Cluster Based Selection of Candidate Genes in Genome Wide Association Studies.
全基因组关联研究中候选基因的基于聚类的选择。
- 批准号:
7532411 - 财政年份:2008
- 资助金额:
$ 7.07万 - 项目类别:
Cluster Based Selection of Candidate Genes in Genome Wide Association Studies.
全基因组关联研究中候选基因的基于聚类的选择。
- 批准号:
7806806 - 财政年份:2008
- 资助金额:
$ 7.07万 - 项目类别:
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