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Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

通过基因组测序进行产前基因诊断：前瞻性评估

基本信息

批准号：
10522736
负责人：
RONALD WAPNER
金额：
$ 74.7万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-11-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10522736
关键词：
Acute Address Adult Algorithms Awareness Childhood Clinical Cloud Computing Collaborations Computer Analysis Congenital Abnormality Data Data Analyses Data Collection Development Developmental Biology Diagnosis Diagnostic Diagnostic Procedure Disease Educational workshop Environment Evaluation FAIR principles Fetal Development Funding Future Genetic Genome Genomics Genotype Goals Guidelines Health Human Individual Infrastructure International Laboratories Learning Mining Modeling Neonatal Screening Ontology Organ Perinatal Phenotype Physicians Population Pregnancy Prenatal Diagnosis Publishing Research Research Personnel Resources Role Second Pregnancy Trimester Series Site Standardization Structural defect System The Jackson Laboratory Third Pregnancy Trimester Time Translational Research United States United States National Institutes of Health Universities Variant Work body system clinical care cloud based data ingestion data integration data management data repository data sharing diverse data experience fetal gene discovery genetic disorder diagnosis genome sequencing genomic data improved in utero industry partner innovation international center novel parent grant perinatal medicine phenotypic data prenatal prevent prospective rare variant recruit repository repository infrastructure response tool volunteer whole genome

项目摘要

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.

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。

项目成果

期刊论文数量（18）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.

DOI：
10.1007/s10897-016-9943-z
发表时间：
2016-10
期刊：
JOURNAL OF GENETIC COUNSELING
影响因子：
1.9
作者：
Walser, Sarah A.;Werner-Lin, Allison;Russell, Amita;Wapner, Ronald J.;Bernhardt, Barbara A.
通讯作者：
Bernhardt, Barbara A.

Prenatal diagnosis by chromosomal microarray analysis.