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

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
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/10255329
关键词：
Animal ModelBiologicalBiomedical ComputingChemistryClinical DataComputational ScienceDataData AnalysesData CollectionData SourcesDeficiency DiseasesDevelopmentDiseaseDisease PathwayFarber&aposs lipogranulomatosisGenesGeneticGenomicsGenotypeHumanLaboratoriesMolecularNational Cancer InstitutePhenotypeRare DiseasesResourcesSignal TransductionSoftware FrameworkSourceTherapeuticTherapeutics for Rare and Neglected DiseasesVariantVisualization softwareWorkanalytical toolanticancer researchbioinformatics resourcecreatine transporterinsightprograms

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英文摘要
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.
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Developing an Integrated Rare Disease Bioinformatics Resource to Determine Phenotype to Genotype Correlations
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