Bioinformatics Section

生物信息学组

• 批准号: 10469584
• 负责人: Elissa J Chesler
• 金额: $ 44.79万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-09-01 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10469584
• 关键词: Aloral; Animal Model; Benchmarking; Bioinformatics; Catalogs; Clinical; Clinical Research; Collaborations; Complex; Computer software; Coupled; Data; Databases; Defect; Development; Disease; Disease model; Evaluation; Genes; Genetic; Genetic Variation; Genomics; Goals; Heterogeneity; Human; Human Genetics; Informatics; Infrastructure; Intake; International; Laboratories; Laboratory mice; Mind; Modeling; Mus; Ontology; Outcome; Phenotype; Process; Quality Control; Research Personnel; Resources; Services; Software Design; System; The Jackson Laboratory; Validation; Variant; Work; data integration; data quality; data resource; data tools; design; experience; genetic variant; genome database; genome resource; human disease; human model; improved; knowledge graph; model development; mouse genetics; mouse genome; mouse model; novel; optimism; phenome; phenomics; pre-clinical; precision genetics; programs; tool; user-friendly

PROJECT SUMMARY BIOINFORMATICS CORE The broad goal of the Bioinformatics Core is to support development of novel mouse models in The Jackson Laboratory (JAX) Center for Precision Genetics (JCPG) with portal that supports the activities of the Center with simplified access to tools, resources and expertise, and deploys data driven strategies that integrate genetic, genomic and phenotypic information across humans and mice. The development of disease models has been hampered by simplifying assumptions regarding disease variant identification, phenotype annotation and model development. Unfortunately, the early notion held by human and mouse geneticists that a defect in a single gene would equate to a single disease has proven wrong and it is now clear that human disease is much more complex. Progress depends on making animal models that reflect this complexity. The JCPG Bioinformatics Core will develop, implement, disseminate, apply and validate data-driven approaches to the refinement of mouse models through the computational integration of genetic and phenotypic heterogeneity. This work harnesses and integrates a suite of tools and data resources available at The Jackson Laboratory and beyond, including GeneWeaver, Mouse Phenome Database, Human Phenotype Ontology and Monarch Initiative, and multiple resources from the Mouse Genome Database and Alliance for Genome Resources. The practical goal of the Core is to establish the workflows, implement software enhancements and a publicly accessible portal that provide a seamless user experience for the identification, design and evaluation of mouse models appropriate for a given disease. To achieve this our work will pursue the following three Aims, each designed to develop specific tools or services: Aim 1. We will develop a suite of services for the analytic integration of human and mouse genetic, genomic and phenomic data to identify and prioritize features for enhanced precision disease models. Aim 2. We will provide an integrated study intake and management system with data quality control, analytics and dissemination tools that interoperates with our knowledge graph and catalogue. Aim 3. We will develop an external end-user facing portal for access to guided workflows, data and model and model organisms, project tracking and access to integrated resources.

项目摘要生物信息学核心 生物信息学核心的广泛目标是支持杰克逊中新型鼠标模型的开发 Portal的实验室（JAX）Precision Genetics（JCPG），该中心支持该中心的活动 通过简化访问工具，资源和专业知识，并部署了集成数据驱动的策略 人类和小鼠的遗传，基因组和表型信息。疾病模型的发展 通过简化有关疾病变异鉴定，表型注释的假设来阻碍 和模型开发。不幸的是，人类和老鼠遗传学家持有的早期概念是 单个基因将等于单一疾病已被证明是错误的，现在很明显人类疾病是 更复杂。进步取决于制造反映这种复杂性的动物模型。 JCPG生物信息学核心将开发，实施，传播，应用和验证数据驱动 通过遗传和 表型异质性。这项工作利用并集成了一套可用的工具和数据资源 杰克逊实验室及其他 本体和君主倡议，以及鼠标基因组数据库和联盟的多个资源 基因组资源。核心的实际目标是建立工作流程，实施软件 增强功能和公共可访问的门户网站，为标识提供无缝的用户体验， 适合给定疾病的小鼠模型的设计和评估。为了实现这一目标，我们的工作将追求 以下三个目标，旨在开发特定的工具或服务： 目标1。我们将开发一套服务，用于人类和小鼠遗传，基因组的分析整合 和现象数据，以识别和优先考虑增强精度疾病模型的特征。 目标2。我们将通过数据质量控制，分析提供一个集成的研究摄入和管理系统 以及与我们的知识图和目录互操作的传播工具。 目标3。我们将开发一个面向门户的外部最终用户，以访问指导的工作流，数据和模型，并且 建模生物体，项目跟踪和访问集成资源。