Identification of Rare Variants in PD through Whole Exome Sequencing
通过全外显子组测序鉴定 PD 罕见变异
基本信息
- 批准号:8264601
- 负责人:
- 金额:$ 68.01万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2011
- 资助国家:美国
- 起止时间:2011-09-30 至 2016-08-31
- 项目状态:已结题
- 来源:
- 关键词:AgeAmishCandidate Disease GeneCell Culture TechniquesCellsChromosomesChromosomes, Human, Pair 9Cluster AnalysisComplexDataData SetDiseaseEnvironmental ExposureFission YeastFrequenciesGene ClusterGene Expression ProfileGene FrequencyGene SilencingGenesGeneticGoalsGrowthIndividualMitochondriaModelingMutationNuclearNucleic Acid Regulatory SequencesOdds RatioOrganismParkinson DiseasePathway interactionsPatientsPopulationRecording of previous eventsResearchRiskSample SizeSamplingTechniquesTestingUniversitiesVariantWorkYeastsZebrafishbiological systemscostdisorder controlexomegene discoverygene functiongenetic linkage analysisgenetic pedigreegenome sequencinggenome wide association studygenome-wideimprovedinduced pluripotent stem cellinterestmeetingsnext generationtool
项目摘要
Project I - Genetic studies in Parkinson Disease (PD) have been a major tool fueling the tremendous
growth in research. However, there is increasing realization that common variations (MAF > 5%) alone are
not responsible for the genetic contribution to risk for developing PD and many other complex disorders.
One of the alternative hypothesis for this missing genetic contribution are rare variants. Over the past year
we initiated one of the first whole exome sequencing (WES) projects for Parkinson disease to search for
rare variants contributing to PD. This project continues this work, incorporates our recent work on pathways
into our analyses, and will provide information on the pathways and function of the genes discovered.
Specific Aim 1 identifies an initial set of rare variants and additional SNPs in a discovery set of 500
Parkinson Disease patients and 500 controls for testing in our replication dataset in Specific Aim 3a.
Specific Aim 2 utilizes a large Amish pedigree to look for rare variants using WES, targeted capture and
potentially whole genome sequencing. The Amish present a group of individuals with both a relatively
uniform environmental exposure history and increased genetic homogeneity. Linkage analysis reveals a
strong locus on chromosome 9 In several branches of the pedigree, and additional loci on other
chromosomes. This is thus a good model for PD in the outbred population. In Specific Aim 3 we will test
the top 200 genes and/or variants from our discovery dataset in an additional 500 cases and 500 controls .
To accomplish this efficiently we will create a targeted capture for next generation sequencing . Analyses of
this verification datasets will include multiple subsets of the data including by variant, variants within a gene
"cluster", pathway analyses, gene networks of interest such as mitochondrial nuclear genes and AAO
differences. In order to improve information on pathways and also evaluate the identified genes and there
relationship to other known PD genes, we will examine differentially expression using silencing and other
interventional techniques for the candidate genes in three different biological systems through Core D:
yeast, zebrafish and induced pluripotent stem cells derived from PD patients and controls.
帕金森氏病(PD)的遗传研究已成为推动这一巨大进步的主要工具
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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JEFFERY Marvin VANCE其他文献
JEFFERY Marvin VANCE的其他文献
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{{ truncateString('JEFFERY Marvin VANCE', 18)}}的其他基金
Summer Research Experience in Biological and Computational Sciences
生物和计算科学暑期研究经历
- 批准号:
9212963 - 财政年份:2014
- 资助金额:
$ 68.01万 - 项目类别:
Summer Research Experience in Biological and Computational Sciences
生物和计算科学暑期研究经历
- 批准号:
8830703 - 财政年份:2014
- 资助金额:
$ 68.01万 - 项目类别:
Summer Research Experience in Biological and Computational Sciences
生物和计算科学暑期研究经历
- 批准号:
10319999 - 财政年份:2014
- 资助金额:
$ 68.01万 - 项目类别:
Summer Research Experience in Biological and Computational Sciences
生物和计算科学暑期研究经历
- 批准号:
9920446 - 财政年份:2014
- 资助金额:
$ 68.01万 - 项目类别:
Summer Research Experience in Biological and Computational Sciences
生物和计算科学暑期研究经历
- 批准号:
10084322 - 财政年份:2014
- 资助金额:
$ 68.01万 - 项目类别:
Identification of Rare Variants in PD through Whole Exome Sequencing
通过全外显子组测序鉴定 PD 罕见变异
- 批准号:
8540540 - 财政年份:2012
- 资助金额:
$ 68.01万 - 项目类别:
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