Mouse Phenotyping Informatics Infrastructure - Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data.
Mouse Phenotyping Informatics Infrastructure - Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data.
批准号:
10798517
负责人:
Ann-Marie Mallon
金额:
$14.23万
依托单位国家:
美国
项目类别:
财政年份:
2011
资助国家:
美国
项目状态:
未结题
起止时间:
2011-09-16 至 2027-06-30
关键词:
AdoptedAdoptionBiologicalBiological ProcessBiomedical ResearchCommunitiesCost MeasuresDataData AnalysesData ScienceData SetDiagnosisDiseaseFAIR principlesFundingFutureGenesGenomicsHealthHeart DiseasesHumanIndustryInformaticsInternationalMachine LearningMethodsMolecularMusOntologyOutcomePathway interactionsPhenotypeProcessPublishingQuality ControlReportingRepository OperationsResearch MethodologyResearch PersonnelResourcesServicesTerminologyTranslationsUnited States National Institutes of HealthVisualizationWorkapplication programming interfacebiomedical resourcecloud basedcostdata acquisitiondesigngene functionhuman diseaseimprovedinformatics infrastructureknowledge graphknowledge integrationmodel organismmouse genomenovelphenomicsphenotypic datarare genetic disordertrustworthiness
中文摘要
项目摘要
国际小鼠表型鉴定联盟(IMPC)是生物医学研究的重要资源
为具有很少或未知功能的基因提供新的基因-表型关联,
成千上万的机制研究,并提供与基因组,表型和人类疾病的整合-
提供相关信息,以更好地了解罕见和常见疾病的根本原因,
疾病该项目旨在通过以下方式提高资源的公平性和可信度:
* 改进资源鉴定,重点是生物技术生产的实际模式生物。
财团
●通过发布IMPC知识图谱,提高资源的曝光率和采用率
●开发概念验证,以获取长期可持续性的成本指标
英文摘要
PROJECT SUMMARY
The International Mouse Phenotyping Consortium (IMPC) is a critical resource for biomedical research
providing novel gene-phenotype associations for genes with little or no known function, supplying strains for
thousands of mechanistic studies and delivering integration with genomic, phenomic and human disease-
relevant information providing improved understanding into the underlying causes of rare and common
disease. This project aims to improve the FAIR-ness and TRUST-worthiness of the resource by:
● Improving resource identification with a focus on the actual model organisms produced by the
consortium
● Increasing the exposure and adoption of the resource by publishing an IMPC knowledge graph
● Developing a proof of concept to capture cost metrics for long-term sustainability
期刊论文(25)
专著(0)
科研奖励(0)
会议论文
DOI:
10.1093/nar/gkac972
发表时间:
2023-01-06
期刊:
NUCLEIC ACIDS RESEARCH
影响因子:
14.9
作者:
[Groza, Tudor, Gomez, Federico Lopez, Mashhadi, Hamed Haseli, Munoz-Fuentes, Violeta, Gunes, Osman, Wilson, Robert, Cacheiro, Pilar, Frost, Anthony, Keskivali-Bond, Piia, Vardal, Bora, McCoy, Aaron, Cheng, Tsz Kwan, Santos, Luis, Wells, Sara, Smedley, Damian, Mallon, Ann-Marie, Parkinson, Helen]
通讯作者:
Parkinson, Helen
DOI:
10.1038/s41467-020-14284-2
发表时间:
2020-01-31
期刊:
NATURE COMMUNICATIONS
影响因子:
16.6
作者:
[Cacheiro, Pilar, Munoz-Fuentes, Violeta, Kane, Coleen]
通讯作者:
Kane, Coleen
Mouse Phenotyping Informatics Infrastructure - Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data.
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批准号:10516810
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项目类别:
-
资助金额:$151.95万
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财政年份:2011
-
负责人:Ann-Marie Mallon
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依托单位:
海外基金