Heritability of complex traits via IBD and IBS in related and unrelated individua
通过 IBD 和 IBS 在相关和无关个体中实现复杂性状的遗传力
基本信息
- 批准号:8444904
- 负责人:
- 金额:$ 8.08万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2012
- 资助国家:美国
- 起止时间:2012-12-19 至 2014-11-30
- 项目状态:已结题
- 来源:
- 关键词:AddressAffectAlgorithmsAllelesArchitectureBenchmarkingChromosome MappingCollaborationsComplexComputer softwareDataData SetDiseaseEvaluationFamilyFamily StudyFrequenciesFutureGenesGeneticGenetic RiskGenomeGenomicsGenotypeGoldHeightHeritabilityHumanHuman GeneticsIndividualInequalityInheritedLeftLinkage DisequilibriumLocationMedical GeneticsMethodsMotivationNon-Insulin-Dependent Diabetes MellitusParentsPatternPhasePopulationPrevalencePropertyPublicationsRelative (related person)ResearchResearch DesignRheumatoid ArthritisSamplingScanningSignal TransductionSourceStructureTwin StudiesVariantbasecase controldisorder riskgenome wide association studygenome-widehuman diseaseinterestpublic health relevancerisk variantsimulationtrait
项目摘要
DESCRIPTION (provided by applicant):
Genome-wide association studies (GWAS) have identified hundreds of risk variants associated to common diseases and other traits, yet in most cases have explained only a small fraction of genetic heritability. The source of this "missing heritability" is a critical question in human genetics. Efforts to address this question have largely focused on the search for specific disease risk variants, leaving the bulk of heritability still unexplained. We will systematically deconstruct genetic heritability by investigating how genetic content shared either via segments inherited identical-by-descent (IBD) or genotyped alleles identical-by-state (IBS), either genome-wide or partitioned across the genome, corresponds to phenotypic similarity across a broad range of human traits. We will use IBD to characterize the set of all risk variants, and IBS to characterize the subset of risk variants genotyped or tagged by GWAS chips. We will explore the idea that genetic similarity between "unrelated" individuals can be as useful, or more useful, than similarity between close relatives in quantifying and understanding genetic heritability. Partitioning heritability by genomic location will enable us to draw conclusions about the genetic architecture of various human traits, considering both the set of all risk variants and the subset of risk variants captured by GWAS chips. We will develop these ideas via simulation and apply them to real GWAS data comprising 70,000 samples. We will continue to release practical, publicly available software packages implementing the methods that we develop.
描述(由申请人提供):
全基因组关联研究(GWAS)已经确定了数百种与常见疾病和其他性状相关的风险变异,但在大多数情况下,只能解释一小部分遗传性。这种“缺失的遗传性”的来源是人类遗传学中的一个关键问题。解决这一问题的努力主要集中在寻找特定的疾病风险变异上,使得大部分遗传性仍然无法解释。我们将系统地解构遗传遗传力,通过研究遗传内容如何通过遗传的血统相同(IBD)或基因型等位基因相同的状态(IBS),无论是全基因组或跨基因组分区,对应于广泛的人类性状的表型相似性。我们将使用IBD来表征所有风险变体的集合,并使用IBS来表征由GWAS芯片进行基因分型或标记的风险变体的子集。我们将探讨的想法,“无关”的个人之间的遗传相似性可以是有用的,或更有用的,比近亲之间的相似性在量化和理解遗传遗传。通过基因组位置划分遗传性将使我们能够得出关于各种人类特征的遗传结构的结论,同时考虑所有风险变体的集合和GWAS芯片捕获的风险变体的子集。我们将通过模拟开发这些想法,并将其应用于由70,000个样本组成的真实的GWAS数据。我们将继续发布实用的、公开可用的软件包,以实现我们开发的方法。
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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{{ truncateString('ALKES L PRICE', 18)}}的其他基金
Predicting the impact of genetic variants, genes and pathways on human Disease
预测遗传变异、基因和途径对人类疾病的影响
- 批准号:
10296867 - 财政年份:2021
- 资助金额:
$ 8.08万 - 项目类别:
Predicting the impact of genetic variants, genes and pathways on human Disease
预测遗传变异、基因和途径对人类疾病的影响
- 批准号:
10647775 - 财政年份:2021
- 资助金额:
$ 8.08万 - 项目类别:
Predicting the impact of genetic variants, genes and pathways on human Disease
预测遗传变异、基因和途径对人类疾病的影响
- 批准号:
10483152 - 财政年份:2021
- 资助金额:
$ 8.08万 - 项目类别:
Detecting natural selection by comparing African-ancestry populations
通过比较非洲血统人群来检测自然选择
- 批准号:
8242257 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Liability threshold modeling of genes and environment in case-control studies
病例对照研究中基因和环境的责任阈值模型
- 批准号:
8476220 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Liability threshold modeling of genes and environment in case-control studies
病例对照研究中基因和环境的责任阈值模型
- 批准号:
8217393 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Liability threshold modeling of genes and environment in case-control studies
病例对照研究中基因和环境的责任阈值模型
- 批准号:
8685259 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Detecting natural selection by comparing African-ancestry populations
通过比较非洲血统人群来检测自然选择
- 批准号:
8442247 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Heritability of complex traits via IBD and IBS in related and unrelated individua
通过 IBD 和 IBS 在相关和无关个体中实现复杂性状的遗传力
- 批准号:
8599787 - 财政年份:2012
- 资助金额:
$ 8.08万 - 项目类别:
Methods for Genome-wide Association Studies in Admixed Populations
混合人群全基因组关联研究的方法
- 批准号:
8281417 - 财政年份:2011
- 资助金额:
$ 8.08万 - 项目类别:
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