A phenomics-first resource for interpretation of variants
用于解释变异的表型组学优先资源
基本信息
- 批准号:10448140
- 负责人:
- 金额:$ 220.75万
- 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:2021-07-09 至 2025-05-31
- 项目状态:未结题
- 来源:
- 关键词:AddressAdoptionAlgorithmsAnimal ModelBasic ScienceBiologyCandidate Disease GeneCase StudyCharacteristicsClinicalClinical DataCommunitiesComplexConflict (Psychology)DataData SourcesDatabasesDevelopmentDiagnosisDiagnosticDiseaseDisease modelEvaluationFaceFast Healthcare Interoperability ResourcesFrequenciesFunctional disorderGenesGenetic DiseasesGenomeGenomicsGenotypeHumanHuman GenomeInformation ResourcesJournalsKnowledgeLinkMainstreamingManualsMedical GeneticsMethodsModalityModelingModernizationOntologyOutcomePatient CarePatientsPhenotypeProcessRare DiseasesResearchResearch PersonnelResourcesSoftware EngineeringSourceStructureSystemTechniquesTechnologyTerminologyVariantWorkbaseclinical careclinically actionablecommunity partnershipcomputational platformdata integrationdata modelingdata standardsdatabase schemadisease diagnosisdisease phenotypegene functiongenetic variantgenomic variationheterogenous datahuman diseaseimprovedinteroperabilitynovelpatient registryphenomicsphenotypic dataprecision medicineprototypetoolvariant of unknown significance
项目摘要
A Phenomics-First Resource (PFR) for interpretation of variants
Genomics is key to precision medicine; however, despite the ease of sequencing, clinical interpretation is still
thwarted because relevant data (disease, phenotype, and variant) is complex, heterogeneous, and
disaggregated across sources. Moreover, this evidence is sometimes incomplete, conflicting, and erroneous.
Consequently, clinicians face long lists of candidate diseases, genes, and countless variants of unknown
significance. This situation will not improve without capturing and harmonizing the underlying phenotypic
information; computability of this information is the bedrock for the emerging field of phenomics. From basic
science to clinical care, communities need structured ways to represent and exchange phenotypes and
disease definitions. Addressing these fundamental phenomics needs makes it possible to computationally
assess and reveal links between diseases and variants. We have previously shown how the addition of
phenotypic information using the Human Phenotype Ontology (HPO) can improve the diagnostic yield for
hard-to-diagnose patients, and HPO is therefore now a global standard for “deep phenotyping”. We have
demonstrated the applicability of deep phenotyping in the evaluation of rare diseases which have overlapping
mechanistic underpinnings with common/complex diseases as well as evolutionarily conserved mechanisms in
model organisms. Having coordinated the community and prototyped the underlying computational platforms,
we will now align both phenotype ontologies and clinical terminologies, enabling better comparison and
inference of phenotypes for improved diagnostic efficacy. We propose to develop a Phenomics-First
Resource (PFR). Specifically we will:
1. Create a community-driven framework of interoperable phenotype definitions across species (uPheno)
2. Harmonize human disease definitions with the MONDO disease alignment resource
3. Create a community-wide exchange standard for clinical and model-organism phenotypes
(Phenopackets)
4. Develop an integrated phenomics platform to provide the research (e.g. BioLink) and clinical (FHIR)
communities with programmatic access to phenomics ontologies, data, and algorithms
The dynamic suite of interlinked technologies will together leverage community-developed knowledge in order
to make variant interpretation more reliable, better provenanced, and more clinically actionable.
表型优先资源(PFR)用于变异解释
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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MELISSA A HAENDEL其他文献
MELISSA A HAENDEL的其他文献
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{{ truncateString('MELISSA A HAENDEL', 18)}}的其他基金
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics
人类表型本体论:加速基因组学临床数据的计算整合
- 批准号:
10269338 - 财政年份:2021
- 资助金额:
$ 220.75万 - 项目类别:
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics
人类表型本体论:加速基因组学临床数据的计算整合
- 批准号:
10681348 - 财政年份:2021
- 资助金额:
$ 220.75万 - 项目类别:
The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for Genomics
人类表型本体论:加速基因组学临床数据的计算整合
- 批准号:
10491107 - 财政年份:2021
- 资助金额:
$ 220.75万 - 项目类别:
Improvements to the LinkML framework to support the Phenomics First open science resource
改进 LinkML 框架以支持 Phenomics First 开放科学资源
- 批准号:
10608894 - 财政年份:2021
- 资助金额:
$ 220.75万 - 项目类别:
A phenomics-first resource for interpretation of variants
用于解释变异的表型组学优先资源
- 批准号:
10642958 - 财政年份:2021
- 资助金额:
$ 220.75万 - 项目类别:
Adding Big Data Open Educational Resources to the ONC Health IT Curriculum
将大数据开放教育资源添加到 ONC Health IT 课程中
- 批准号:
8828784 - 财政年份:2014
- 资助金额:
$ 220.75万 - 项目类别:
Adding Big Data Open Educational Resources to the ONC Health IT Curriculum
将大数据开放教育资源添加到 ONC Health IT 课程中
- 批准号:
9132830 - 财政年份:2014
- 资助金额:
$ 220.75万 - 项目类别:
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