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University of Washington (UW) Mendelian Genomics Data Coordinating Center

华盛顿大学 (UW) 孟德尔基因组数据协调中心

基本信息

批准号：
10415150
负责人：
Susanne May
金额：
$ 294.4万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-06-01 至 2026-03-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10415150
关键词：
Adherence Authorship Award Bioethics Biological Biometry Candidate Disease Gene ClinVar Collaborations Communication Communities Complex Data Data Coordinating Center Data Science Deposition Diagnosis Diagnostic Disease Education and Outreach Ensure FAIR principles Family Funding Funding Opportunities Genes Genetic Genetic Research Genome Genomics Group Meetings Health Benefit Human Genetics Incentives International Knowledge Lead Logistics Medical Genetics Mendelian disorder Mentorship Methodology National Human Genome Research Institute Persons Phenotype Play Policies Procedures Process Public Health Quality Control Reporting Research Research Personnel Resources Rest Surveys Syndrome System Time Training Training and Education United States National Institutes of Health Universities Untranslated RNA Validation Variant Washington Work base causal variant cloud based cohort data sharing data standards data submission exome sequencing experience experimental study follow-up genetic variant genome sequencing genomic data innovation insight meetings member molecular phenotype novel outreach outreach program phenotypic data programs rare variant repository success virtual web site whole genome working group

项目摘要

PROJECT SUMMARY Despite significant advances made in understanding the genetic basis of the more than 10,000 estimated Mendelian conditions in recent decades, further scientific collaboration and discovery is required to identify the full set of Mendelian diseases and their underlying genetic causes. To build on the success of the Centers for Mendelian Genomics by using further technological, methodological, and data-sharing innovations, NHGRI is establishing a new Mendelian Genomics Research Consortium. As Data Coordinating Center for this Consortium, we propose to further the discovery and characterization of Mendelian conditions by achieving four main aims. (1) Managing the release of molecular and phenotypic data generated or collected by the Consortium's Research Centers, featuring semi-automated and scalable quality control procedures that will validate incoming data against collaboratively-established standards and requirements. We will facilitate data sharing within the Consortium and the broader scientific community by ensuring that curated data are submitted to appropriate repositories including AnVIL, ClinVar, and Matchmaker Exchange. (2) Supporting program outreach through a Consortium website that highlights program progress and discoveries and enabling connections among researchers, clinicians, and families. We will also oversee education, training, and mentorship opportunities. (3) Coordinating logistics for the Consortium, including organization of virtual and in-person meetings and administrative support for all Consortium-wide activities. (4) Overseeing an Opportunity Fund, administering up to 5 awards in each of years 2-5 of the Consortium, to support novel and scalable approaches to functional follow-up on candidate variants. To achieve these four main aims, we propose innovative approaches, including leveraging emerging cloud-based systems for the storage and analysis of human genetic data and integrating international data sharing standards to ensure that data is findable, accessible, interoperable, and reusable (FAIR). Furthermore, we bring a unique blend of expertise across the fields of data science, cloud systems, biostatistics, bioethics, clinical genetics, and Mendelian discovery to the Consortium, and our application rests on 13 successful years of experience and expertise serving as Coordinating or Analysis Centers for 7 large-scale genetic and biomedical projects. Through support and coordination of this Consortium, we will help yield the benefits of identifying the genetic basis of Mendelian conditions to support diagnosis, therapy, and further delineation of syndromes. Further public health benefit will accrue via biological insights into Mendelian diseases that also advance our understanding of related common, complex diseases.

项目总结