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:
- 金额:$ 294.4万
- 依托单位:
- 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:
- 关键词:AdherenceAuthorshipAwardBioethicsBiologicalBiometryCandidate Disease GeneClinVarCollaborationsCommunicationCommunitiesComplexDataData Coordinating CenterData ScienceDepositionDiagnosisDiagnosticDiseaseEducation and OutreachEnsureFAIR principlesFamilyFundingFunding OpportunitiesGenesGeneticGenetic ResearchGenomeGenomicsGroup MeetingsHealth BenefitHuman GeneticsIncentivesInternationalKnowledgeLeadLogisticsMedical GeneticsMendelian disorderMentorshipMethodologyNational Human Genome Research InstitutePersonsPhenotypePlayPoliciesProceduresProcessPublic HealthQuality ControlReportingResearchResearch PersonnelResourcesRestSurveysSyndromeSystemTimeTrainingTraining and EducationUnited States National Institutes of HealthUniversitiesUntranslated RNAValidationVariantWashingtonWorkbasecausal variantcloud basedcohortdata sharingdata standardsdata submissionexome sequencingexperienceexperimental studyfollow-upgenetic variantgenome sequencinggenomic datainnovationinsightmeetingsmembermolecular phenotypenoveloutreachoutreach programphenotypic dataprogramsrare variantrepositorysuccessvirtualweb sitewhole genomeworking 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
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Susanne May其他文献
Susanne May的其他文献
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{{ truncateString('Susanne May', 18)}}的其他基金
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
- 批准号:
10615223 - 财政年份:2021
- 资助金额:
$ 294.4万 - 项目类别:
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
- 批准号:
10216104 - 财政年份:2021
- 资助金额:
$ 294.4万 - 项目类别:
American Trial Using Tranexamic Acid in Thrombocytopenia (A-TREAT) - DCC
美国使用氨甲环酸治疗血小板减少症的试验 (A-TREAT) - DCC
- 批准号:
9284286 - 财政年份:2015
- 资助金额:
$ 294.4万 - 项目类别:
American Trial Using Tranexamic Acid in Thrombocytopenia (A-TREAT) - DCC
美国使用氨甲环酸治疗血小板减少症的试验 (A-TREAT) - DCC
- 批准号:
9494418 - 财政年份:2015
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
8402640 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
8787766 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
8595325 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
8240619 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
9122852 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
Resuscitation Outcomes Consortium (ROC) Data Coordinating Center
复苏结果联盟 (ROC) 数据协调中心
- 批准号:
8609638 - 财政年份:2004
- 资助金额:
$ 294.4万 - 项目类别:
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