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:10472668
- 负责人:
- 金额:$ 467.99万
- 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:AddressAdvocateAreaAttentionBasic 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 SystemsPathogenicityPatient 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
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.
项目总结/摘要
关于临床相关基因和变异的高质量证据是基因组学的基本基石。
药临床护理的所有方面都来源于关于病因学、自然史和
疾病管理。随着基因组分析在患者护理中变得越来越常规,
关于基因和变异的精心策划和专业裁定的知识是至关重要的。ClinGen资源
代表了遗传学界的高度合作努力,以建立一个基于证据的资源,
评估基因和变异的临床相关性,这些基因和变异易于获得(并受其信任)
诊断实验室、供应商和患者。我们的目标是通过加强和
使用创新方法加速临床基因组的治疗,以克服挑战并解决
新的话题我们将通过共同努力实现以下目标来实现这一目标:
结构化证据的遗传条件和基因和变异,导致他们;应用
临床有效性,变异致病性和遗传性的临床可操作性的专家治疗框架
条件;广泛传播有关临床相关的工具、标准、知识库和声明
基因和变异;并评估这项工作的各个方面,以便我们能够提高质量和影响,
实现透明、可重复和循证的基因组医学的资源。的
该提案在几个方面都是创新的。它将汇集尖端技术产生的数据,
注释工具,通过社区策展实现众包,并应用先进的自然语言
处理注释,以便人类策展人可以在其技能水平的顶部工作。它将利用
一个庞大而热情的志愿者社区的参与,从而成为NIH的力量倍增器
资助团队。它将让能够在其专业领域开展外联活动的倡导者参与,
将ClinGen产品的范围扩展到基因组医学研究和临床护理。它将改变一个广泛的
将一系列临床和基础科学数据转化为结构良好、透明引用的专家断言,
记录出处,并注意确保资源与不同目的的互操作性,
用户,包括电子健康记录。拟议的资源项目意义重大,因为其整体
将改善,规模,并传播免费提供的专家策展和人类的解释,
基因组的全球基因组学社区,以改善所有人的医疗保健的目标。
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)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
JONATHAN S BERG其他文献
JONATHAN S BERG的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
10606182 - 财政年份:2017
- 资助金额:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 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:
$ 467.99万 - 项目类别:
相似海外基金
Optimizing Health and Well-Being of Diverse Mothers with IDD and Their Infants During the Perinatal Period: A Virtual Advocate Tool for Data-Driven Supports
优化患有 IDD 的不同母亲及其婴儿在围产期的健康和福祉:用于数据驱动支持的虚拟倡导工具
- 批准号:
10760051 - 财政年份:2023
- 资助金额:
$ 467.99万 - 项目类别:
POSE: Phase II: Advocate Led Long-term Gameplan for Open OnDemand (ALL GOOD)
POSE:第二阶段:倡导者主导 Open OnDemand 的长期游戏计划(一切顺利)
- 批准号:
2303692 - 财政年份:2023
- 资助金额:
$ 467.99万 - 项目类别:
Standard Grant
Capitalising on our differences: A gathering to better understand and advocate for Early Career Health Researchers in Canada
利用我们的差异:更好地理解和倡导加拿大早期职业健康研究人员的聚会
- 批准号:
468168 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
Miscellaneous Programs
Addressing social adversity to improve outcomes among children undergoing liver transplant: the role for a health advocate on the transplant team
解决社会逆境以改善接受肝移植的儿童的预后:移植团队中健康倡导者的作用
- 批准号:
10427960 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
Evaluating an ACEs-Targeting Advocate Model of a Substance Use Prevention Program
评估药物使用预防计划的针对 ACE 的倡导者模型
- 批准号:
10577074 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
The Art of Creation: Using Art-Based Knowledge Translation to Promote and Advocate for a Healthy Start to Life
创造的艺术:利用基于艺术的知识转化来促进和倡导健康的生命开端
- 批准号:
486588 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
Studentship Programs
When I am Old, I shall Wear Purple Nail Varnish: Utilising performance art to construct queer spaces that celebrate and advocate for ageing bodies
当我老了,我要涂紫色指甲油:利用行为艺术构建酷儿空间,庆祝和倡导衰老的身体
- 批准号:
2760091 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
Studentship
Addressing social adversity to improve outcomes among children undergoing liver transplant: the role for a health advocate on the transplant team
解决社会逆境以改善接受肝移植的儿童的预后:移植团队中健康倡导者的作用
- 批准号:
10621188 - 财政年份:2022
- 资助金额:
$ 467.99万 - 项目类别:
Techquity by FAITH!: A cluster randomized controlled trial to assess the efficacy of a community-informed, cardiovascular health promotion mobile hlth intervention with digital health advocate support
Techquity by FAITH!:一项整群随机对照试验,旨在评估社区知情、心血管健康促进移动 hlth 干预措施在数字健康倡导者支持下的效果
- 批准号:
10891016 - 财政年份:2021
- 资助金额:
$ 467.99万 - 项目类别:
CMV responses in autoantibody positive subjects advocate antiviral treatments for prevention of T1D
自身抗体阳性受试者的 CMV 反应主张抗病毒治疗以预防 T1D
- 批准号:
10230365 - 财政年份:2020
- 资助金额:
$ 467.99万 - 项目类别: