Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)

项目摘要 拟议中的贝勒医学院孟德尔基因组学研究中心（BCM-MGRC）建立在 贝勒霍普金斯孟德尔基因组学中心建立了广泛的发现和基础设施。 这项研究计划是嵌套在分子和人类遗传学系在斯坦福大学，将 受益于广泛的合作研究基础设施，包括人类基因组 测序中心，未诊断疾病网络临床网站，未诊断疾病网络 模式生物筛选中心、贝勒遗传学诊断实验室和贝勒基因敲除小鼠 程序.值得注意的是，每个项目都建立了自己的国家和国际合作。 一个表型和种族多样性的国际队列，约15，000个个体和家庭， 诊断罕见疾病的挑战性条件（那些未通过常规临床研究解决的，如外显子组 测序）和谁是重新联系和同意广泛的数据共享将构成的基础， MGRC研究计划。该中心将整合新的基因组数据分析方法， 跨网络，新的基因组测序技术的实施，以及分子和 优先候选疾病基因和变体的生物体表型询问。现有数据 Lake基础设施将与孟德尔基因组学数据协调中心（MGDCC）和AnVIL整合 分享关键成果，包括基因组和表型数据、病例元数据和BCM-MGRC- 开发了基因组医学。作为一个完全整合的孟德尔基因组学研究中心，该中心- MGRC将为解决未解决问题的算法的开发和交付提供信息，该算法将解决复杂的 罕见和常见疾病研究领域的分子机制，与 预期的发现，以支持临床诊断和分子平面图的生成， 发展精确治疗。

PROJECT SUMMARY The proposed Baylor College of Medicine Mendelian Genomics Research Center (BCM-MGRC) builds on the extensive discoveries and infrastructure established in the Baylor Hopkins Center for Mendelian Genomics. This research program is nested within the Department of Molecular and Human Genetics at BCM and will benefit from an extensive collaborative research infrastructure which includes, the Human Genome Sequencing Center, the Undiagnosed Diseases Network Clinical Site, the Undiagnosed Diseases Network Model Organism Screening Center, Baylor Genetics diagnostic laboratory, and the Baylor Knockout Mouse Program. Notably, each of these programs has established their own national and international collaborations. A phenotypically and ethnically diverse, international cohort of ~15,000 individuals and families with challenging-to-diagnose rare disease conditions (those unsolved by routine clinical studies such as exome sequencing) and who are re-contactable and consented for broad data-sharing will form the basis of the BCM- MGRC research program. The Center will integrate novel methods of genomic data analysis, data sharing across networks, implementation of newer genomic sequencing technologies, and methods for molecular and organismal phenotypic interrogation of prioritized candidate disease genes and variants. The existing Data Lake infrastructure will integrate with the Mendelian Genomics Data Coordinating Center (MGDCC) and AnVIL to share key deliverables including genomic and phenotypic data, case metadata, and a BCM-MGRC- developed Genomic Medicine Toolbox. As a fully integrated Mendelian Genomics Research Center, the BCM- MGRC will inform development and delivery of an algorithm for solving the unsolved that will tackle complex molecular mechanisms in the rare and common disease research space, with seamless integration of anticipated discoveries to support clinical diagnostics and the generation of molecular floorplans from which to develop precision therapeutics.