The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
临床基因组资源 — 通过大规模基因和变异的生物管理和专家评估推进基因组医学
基本信息
- 批准号:10606182
- 负责人:
- 金额:$ 37.27万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2017
- 资助国家:美国
- 起止时间:2017-09-12 至 2026-06-30
- 项目状态:未结题
- 来源:
- 关键词:AddressAdvocateAreaAttentionAwardBasic ScienceBioinformaticsCaringClinicalClinical SciencesClinical assessmentsCollaborationsCommunitiesDataData AggregationData SetData SourcesDiagnosticDiseaseDisease ManagementDocumentationEducation and OutreachElectronic Health RecordEnsureEtiologyEvaluationFeedbackFundingGeneticGenetic CounselingGenetic DiseasesGenetic VariationGenomeGenomic medicineGenomicsGoalsHealthHealth BenefitHealth PersonnelHealthcareHumanHuman GeneticsHuman GenomeInternationalKnowledgeLaboratoriesMedical GeneticsMethodsMissionMolecular GeneticsNational Human Genome Research InstituteNatural HistoryNatural Language ProcessingNeeds AssessmentOnline SystemsParentsPathogenicityPatient CarePatientsPersonsPhaseProcessProductionProductivityProgram EvaluationProviderPublic HealthReproducibilityResearchResearch PersonnelResourcesRewardsScientistSourceSpeedStructureSystemTechnologyTrainingTranslational ResearchTrustUnited States National Institutes of HealthVariantWorkadjudicateannotation systemclinical careclinical practiceclinically actionableclinically relevantcomputerized toolscrowdsourcingdata modelingdata standardsdiverse dataevidence basegenetic resourcegenetic variantgenome resourceimprovedinnovationinteroperabilityknowledge basemedical specialtiesnovelnovel strategiesonline resourceoutreachrecruitskillstooltranslational genomicsvolunteerworkforce needs
项目摘要
Project Summary/Abstract from Parent Award
High-quality evidence about clinically relevant genes and variants is a fundamental cornerstone of genomic
medicine. All aspects of clinical care derive from accurate information about the etiology, natural history, and
management of disease. With genomic analysis becoming more routine for patient care, the public availability
of well-curated and expertly adjudicated knowledge about genes and variants is critical. The ClinGen Resource
represents a highly collaborative effort of the genetics community to establish an evidence-based resource for
the assessment of the clinical relevance of genes and variants that is readily accessible to (and trusted by)
diagnostic laboratories, providers, and patients. Our objective is to improve patient care through enhanced and
accelerated curation of the clinical genome using innovative approaches to overcome challenges and address
new topics. We will accomplish this objective through the concerted pursuit of the following aims: aggregation
of structured evidence regarding genetic conditions and the genes and variants that cause them; application of
frameworks for expert curation of clinical validity, variant pathogenicity, and clinical actionability of genetic
conditions; broad dissemination of tools, standards, knowledge bases, and assertions about clinically relevant
genes and variants; and evaluation of all aspects of this work, so that we can improve the quality and impact of
the resource for implementation of transparent, reproducible, and evidence-based genomic medicine. The
proposal is innovative in several ways. It will aggregate data produced by cutting edge technologies, adapt
annotation tools to enable crowdsourcing through community curation, and apply advanced natural language
processing for annotation so that human curators can function at the top of their skill level. It will leverage the
participation of a large and enthusiastic community of volunteers, thus acting as a force multiplier for the NIH
funded teams. It will engage advocates who can conduct outreach within their areas of specialty, to further
extend the reach of ClinGen products into genomic medicine research and clinical care. It will transform a wide
range of clinical and basic science data into well-structured, transparently referenced expert assertions with
documentation of provenance and attention to ensuring the interoperability of the resource with diverse end-
users, including electronic health records. The proposed resource project is significant because in its entirety it
will improve, scale, and disseminate the freely available expert curation and interpretation of the human
genome to the global genomics community with the goal of improving health care for all people.
项目摘要/家长奖摘要
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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JONATHAN S BERG其他文献
JONATHAN S BERG的其他文献
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{{ truncateString('JONATHAN S BERG', 18)}}的其他基金
Educational Pathways to increase Diversity in Genomics (EDGE) at UNC Chapel Hill
北卡罗来纳大学教堂山分校增加基因组学多样性的教育途径 (EDGE)
- 批准号:
10347897 - 财政年份:2022
- 资助金额:
$ 37.27万 - 项目类别:
Educational Pathways to increase Diversity in Genomics (EDGE) at UNC Chapel Hill
北卡罗来纳大学教堂山分校增加基因组学多样性的教育途径 (EDGE)
- 批准号:
10563163 - 财政年份:2022
- 资助金额:
$ 37.27万 - 项目类别:
Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics
新生儿、婴儿和儿童基于年龄的基因组筛查:公共卫生基因组学的新范例
- 批准号:
10518804 - 财政年份:2022
- 资助金额:
$ 37.27万 - 项目类别:
Age-based genomic screening in newborns, infants, and children: a novel paradigm in public health genomics
新生儿、婴儿和儿童基于年龄的基因组筛查:公共卫生基因组学的新范例
- 批准号:
10705830 - 财政年份:2022
- 资助金额:
$ 37.27万 - 项目类别:
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
临床基因组资源 — 通过大规模基因和变异的生物管理和专家评估推进基因组医学
- 批准号:
10472668 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
临床基因组资源 — 通过大规模基因和变异的生物管理和专家评估推进基因组医学
- 批准号:
10669089 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
Administrative Supplement: The Clinical Genome Resource - Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
行政补充:临床基因组资源 - 通过大规模基因和变异的生物管理和专家评估推进基因组医学
- 批准号:
10841906 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale
临床基因组资源 — 通过大规模基因和变异的生物管理和专家评估推进基因组医学
- 批准号:
10270142 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
The Clinical Genome Resource - Expert Curation and EHR Integration
临床基因组资源 - 专家管理和 EHR 集成
- 批准号:
9759954 - 财政年份:2017
- 资助金额:
$ 37.27万 - 项目类别:
A Knowledge Base for Clinically Relevant Genes and Variants
临床相关基因和变异的知识库
- 批准号:
9128800 - 财政年份:2013
- 资助金额:
$ 37.27万 - 项目类别:
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