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: 10469262
• 负责人: Elizabeth Ottinger
• 金额: $ 131.14万
• 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/10469262
• 关键词: 3-Dimensional; Animal Model; Biological; Biomedical Computing; Chemistry; Clinical Data; Computational Science; Custom; Data; Data Analyses; Data Collection; Data Correlations; Data Sources; Databases; Deficiency Diseases; Development; Disease; Disease Pathway; Farber' s lipogranulomatosis; Genes; Genetic; Genetic Diseases; Genomics; Genotype; Human; Information Centers; Laboratories; Literature; Manuals; Molecular; National Cancer Institute; Phenotype; Publishing; Rare Diseases; Resources; Signal Transduction; Software Framework; Source; Therapeutic; Therapeutics for Rare and Neglected Diseases; Variant; Visual; Visualization software; Work; analytical tool; anticancer research; bioinformatics resource; creatine transporter; insight; interest; programs; protein structure; web app; web interface

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 build a software framework for data collection and analysis, implementing analytical and visualization tools to display the collected information in an easily digestible manner. There was progress towards the completion of the RARe-SOURCE / Rare Disease Bioinformatics Resource web application, including integration of rare disease information from the Genetic and Rare Diseases Information Center (GARD) and the disease harmonization database at NCATS to allow searches of any rare disease of interest. Several applications were incorporated into the web interface to provide a high-level overview on any gene associated with a rare disease. Visualization tools were customized and adapted to the web application to allow detailed visuals and interactive exploration of 2D/3D protein structures. Additionally, all published, manually curated literature on CTD/SLC6A8 and FD/ASAH1 gene data was fully integrated to provide high accuracy genotype-phenotype correlation data.

TRND计划以前从事过两种罕见的疾病，即肌酸转运蛋白缺乏症（CTD）和Farber疾病（FD），用于初步开发此综合生物信息学资源。在此期间，合作团队从现有的生物学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，包括与变异相关的表型信息。该团队利用并调整了现有的ABCS资源，以构建用于数据收集和分析的软件框架，实施分析和可视化工具，以易于消化的方式显示收集的信息。在稀有 /稀有疾病生物信息学资源Web应用程序的完成方面取得了进展，包括从遗传和稀有疾病信息中心（GARD）整合稀有疾病信息，以及NCATS的疾病协调数据库，以允许搜索任何罕见的感兴趣疾病。在Web界面中纳入了一些应用，以提供有关与罕见疾病相关的任何基因的高级概述。可视化工具是自定义的，并适用于Web应用程序，以允许对2D/3D蛋白质结构的详细视觉效果和交互式探索。此外，所有关于CTD/SLC6A8和FD/ASAH1基因数据的已发表的，手动策划的文献均已完全集成，以提供高精度基因型 - 表型相关数据。