Bioinformatics Section

生物信息学核心项目总结 生物信息学核心的广泛目标是支持杰克逊中新型小鼠模型的开发 精密遗传学中心（JCPG），设有支持中心活动的门户网站 简化了对工具、资源和专业知识的访问，并部署了数据驱动的战略， 人类和小鼠的遗传、基因组和表型信息。疾病模型的发展 由于简化了关于疾病变异鉴定、表型注释 模型开发。不幸的是，人类和老鼠遗传学家早期的观点认为， 一个单一的基因将等同于一种单一的疾病已被证明是错误的，现在很清楚，人类疾病是 复杂得多。进展取决于制作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的 通过遗传学和基因组学的计算整合来改进小鼠模型的方法， 表型异质性这项工作利用并集成了一套工具和数据资源， 杰克逊实验室及其他机构，包括GeneWeaver、小鼠表型数据库、人类表型 Ontology和Monarch Initiative，以及来自小鼠基因组数据库和 Genome Resources.核心的实际目标是建立工作流程，实现软件 增强功能和可公开访问的门户，为身份识别提供无缝的用户体验， 设计和评估适用于给定疾病的小鼠模型。为实现这一目标，我们的工作将继续 以下三个目标，每一个目标都旨在开发特定的工具或服务： 目标1.我们将开发一套服务，用于分析整合人类和小鼠的遗传、基因组 和表型数据来识别和优先化用于增强的精确疾病模型的特征。 目标2.我们将提供一个集成的研究摄入量和管理系统与数据质量控制，分析 以及与我们的知识图谱和目录进行互操作的传播工具。 目标3。我们将开发一个面向外部最终用户的门户网站，用于访问指导工作流程、数据和模型， 模式生物、项目跟踪和综合资源的获取。

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.