Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

项目摘要/摘要 我们目前的R01资助(R01HD055651)正在积极研究 胎儿结构异常的产前测序在临床护理中的应用我们的工作证明了 胎儿基因组及其相关表型的复杂性和独特性。致信地址 这种复杂性，我们开发了一个由其他涉及胎儿的站点组成的国际财团 测序，每两周举行一次会议，讨论他们的经验。有无数的限制 这种非正式模式说明了对单一的、协作的、特定于领域的 基因组和表型数据库。 将我们与布罗德研究所和杰克逊研究所的基因组学领导者的努力结合起来 实验室，我们的目标是开发一个符合以下条件的胎儿基因组和表型数据库 NIH数据管理和共享指南，包括可查找性的公平目标， 可访问性、互操作性和可重用性。使用云构建此数据存储库 新生儿筛查转化研究网络(NBSTRN)的基础设施将 整合来自多个类似合作伙伴的创新工具和专业知识 基因组学和围产期连续体，以改善数据共享和协作。其他内容 全球基因组学联盟将提供专业知识支持他的项目，并 健康(GA4GH)以及家长资助研究站点、学术和行业合作伙伴 提供试点数据。我们预计，建成后，这个储存库将成为一个主要的 研究人员和临床医生在基因组学领域工作的资源，发育 生物学和围产期医学。这个集合的团队将寻求解决这一关键的未得到满足的问题 需要汇总和协调一个中央胎儿基因组数据储存库。

Project summary/Abstract Our present R01 funding (R01HD055651) is actively investigating the clinical utility and value of prenatal sequencing of fetal structural anomalies in clinical care. Our work has demonstrated the complexity and uniqueness of the fetal genome and the associated phenotypes. To address this complexity, we developed an international consortium of other sites involved in fetal sequencing, which meets bi-weekly to discuss their experience. There are numerous limits to this informal model and it has illustrated the need for a single, collaborative, domain specific genomic and phenotypic data repository. Combining our efforts with genomics leaders at The Broad Institute and The Jackson Laboratories, we aim to develop a fetal genomic and phenotypic data repository consistent with NIH guidelines for data management and sharing and inclusive of the FAIR goals of findability, accessibility, interoperability and reusability. Building this data repository using cloud infrastructure at The Newborn Screening Translational Research Network (NBSTRN) will incorporate innovative tools and expertise from a number of partners similarly working in genomics and in the perinatal continuum to improve data sharing and collaboration. Additional expertise will be provided to support his project from The Global Alliance for Genomics and Health (GA4GH) along with the parent grant study sites, academic, and industry partners providing pilot data. We anticipate that, when completed, this repository will serve as a major resource for investigators and clinicians working in the fields of genomics, developmental biology, and perinatal medicine. This assembled team will seek to address this critical unmet need to aggregate and harmonize a central repository of fetal genomics data.