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中文摘要
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描述(由申请人提供):基因组序列草案使大鼠研究发生了革命性的变化。为了满足不断变化的需求,大鼠基因组数据库正在将其重点从基因组学扩展到疾病和表型注释以及基因组序列维护。随着数据集的数量、大小和复杂性的增加,我们必须开发基于web的工具来有效地使用它们。RGD的目标是为社区提供单一、全面、高效的资源。为实现这一目标,我们提出以下具体目标:
英文摘要
DESCRIPTION (provided by applicant): Rat research was revolutionized by the draft genomic sequence. To meet the changing needs, the Rat Genome Database is expanding its focus from genomics to disease and phenotype annotation as well as genome sequence maintenance. As datasets increase in number, size and complexity we must develop web-based tools for their efficient use. The goal of RGD is to serve the community with a single, comprehensive, efficient resource. To meet this goal we propose these specific aims: 1. To Expand the Collection of Rat Genomic Data. RGD leads in annotating and integrating rat genomic data. Annotation will include all known and predicted genes; all SNPs; select haplotypes; and select gene expression and proteomics data. RGD will maintain and distribute the data to the major databases. 2. To Curate the Draft Genomic Sequence. Maintaining the draft sequence is a unique challenge. Collaborating with Baylor University, we will track and annotate sequence modifications between sequence rebuilds. RGD will maintain and improve this resource by identifying regions needing resequencing, ensuring the repair is correct, and passing the data to the major databases. We will create and maintain a reference set of rat genes. 3. To Increase the Biological Content of RGD. The genome is studied for its impact on higher-level physiology. Initially focused on increasing annotation of rat strains, their biological measures, and QTLs across multiple species. We will expand biological content through ontology annotations, capturing data on gene functional variants and pathway annotation, add physiological data to our strain reports, and enable users to compare traits between different strains. 4. To Expand Comparative Analysis Tools. Comparative genomics is a strength of RGD and will expand as functional data increases in human and mouse. As sequence is validated, we will convert comparative maps from RH data based to sequence based. We will use phenotype and disease ontology to compare physiological data between strains and species. Analysis tools utilizing comparative mapping will help fill in sequence and enhance our ability to define gene models. 5. To Provide User Education, Interaction, and Collaboration Programs. Activities promoting RGD in genetic and genomic data storage, analysis, and exploration will continue and be supplemented with online training with a new educational portal utilizing multimedia presentations, an expanded glossary, tutorials, and case studies. A visiting scientist program will support curation, analyses and integration of specialized biological datasets.
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Evaluation of human variants in disease models for end stage renal disease
Evaluation of Human Variants in Disease Models for End Stage Renal Disease
Clinical Genome Wide Sequencing Core for the Undiagnosed Disease Network
Clinical Genome Wide Sequencing Core for the Undiagnosed Disease Network
  • 批准号:
    8774033
  • 项目类别:
  • 资助金额:
    $43.97万
  • 财政年份:
    2014
  • 负责人:
    HOWARD J JACOB
  • 依托单位:
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