Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations

开发综合罕见病生物信息学资源以确定表型与基因型的相关性

• 批准号: 10255329
• 负责人: Elizabeth Ottinger
• 金额: $ 176.43万
• 依托单位: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10255329
• 关键词: Animal Model; Biological; Biomedical Computing; Chemistry; Clinical Data; Computational Science; Data; Data Analyses; Data Collection; Data Sources; Deficiency Diseases; Development; Disease; Disease Pathway; Farber' s lipogranulomatosis; Genes; Genetic; Genomics; Genotype; Human; Laboratories; Molecular; National Cancer Institute; Phenotype; Rare Diseases; Resources; Signal Transduction; Software Framework; Source; Therapeutic; Therapeutics for Rare and Neglected Diseases; Variant; Visualization software; Work; analytical tool; anticancer research; bioinformatics resource; creatine transporter; insight; programs

Two rare diseases that the TRND program has worked on previously, Creatine Transporter Deficiency (CTD) and Farber Disease (FD), are being used for the initial development of this integrated bioinformatics resource. During this period, the collaborative team captured CTD and FD data at the disease, pathway, gene, and chemistry levels, including variant-related phenotypic information, from existing biological informational sources. The team leveraged and adapted existing ABCS resources to begin building a software framework for data collection and analysis, implementing analytical and visualization tools to display the collected information in an easily digestible manner.

TRND计划以前研究过的两种罕见疾病，肌酸转运蛋白缺乏症（CTD）和法伯病（FD），正在用于这种综合生物信息学资源的初步开发。在此期间，合作团队从现有的生物信息来源中捕获了疾病、途径、基因和化学水平的CTD和FD数据，包括变异相关的表型信息。该团队利用并调整了现有的ABCS资源，开始构建数据收集和分析的软件框架，实施分析和可视化工具，以易于理解的方式显示收集的信息。