Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

项目概要/摘要 我们目前的R 01基金（R 01 HD 055651）正在积极研究 产前测序胎儿结构异常的临床护理。我们的工作证明了 胎儿基因组和相关表型的复杂性和独特性。解决 鉴于这种复杂性，我们建立了一个由胎儿相关其他部位组成的国际联盟 测序，每两周开会讨论他们的经验。有许多限制， 这种非正式的模式，它说明了需要一个单一的，协作的，特定领域的 基因组和表型数据库。 结合我们与布罗德研究所和杰克逊的基因组学领导者的努力， 实验室，我们的目标是开发一个胎儿基因组和表型数据库符合 NIH数据管理和共享指南，包括FAIR的可发现性目标， 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）将 吸收一些类似合作伙伴的创新工具和专门知识， 基因组学和围产期连续体，以改善数据共享和协作。额外 全球基因组学联盟将提供专业知识来支持他的项目， 健康（GA 4GH）沿着与家长补助金研究中心，学术和行业合作伙伴 提供试点数据。我们预计，当完成后，这个储存库将作为一个主要的 资源的研究人员和临床医生在基因组学领域的工作，发展 生物学和围产期医学。这一集合的小组将寻求解决这一关键的未得到满足的问题， 需要汇集和协调胎儿基因组数据的中央储存库。

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.