Sequencing not required: Imputing rare variants into a cohort of 100,000 on aging
不需要测序:将罕见变异归入 100,000 个衰老队列中
基本信息
- 批准号:8741922
- 负责人:
- 金额:$ 19.76万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2013
- 资助国家:美国
- 起止时间:2013-09-30 至 2017-04-30
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
DESCRIPTION (provided by applicant): Rare variants may be responsible for a significant amount of the uncharacterized genetic risk underlying many diseases. Large cohorts are necessary to have sufficient power to test such variants. However, assessing rare variants with next generation sequencing is still too cost and time prohibitive to be used on a very large scale.
We propose an innovative project to impute rare variants using the existing and ever-growing amounts of whole-genome and whole-exome sequence data into an extremely large cohort of 100,000 individuals who have been genotyped at over 650,000 single nucleotide polymorphisms (SNPs). It is well known that the ability to impute a variant depends on the number of individuals carrying that variant in the reference panel, but it is still not clear how well imputation can wor for very rare variants. By combining all the available public reference panels we aim to increase the number of referent subjects 10-fold beyond the 1,092 individuals typically used from the 1000 Genomes Project. We will test the validity of our approach by application to telomere length, which has been measured in the same 100,000 individuals that were genotyped. Telomere length is an important characteristic reflecting cellular aging. It is known to decline with age, and has demonstrated associations with cardiovascular disease and its risk factors, cancer, diabetes, and mortality, but the heritability of telomere length has not been fully explained. Understanding the genetic factors underlying telomere length will lead to a better understanding of telomere biology, with obvious health implications.
描述(由申请人提供):稀有变体可能是导致许多疾病潜在的未表征的遗传风险。具有足够的能力来测试此类变体是必要的。但是,通过下一代测序评估稀有变体仍然太成本和时间过高,无法大规模使用。
我们提出了一个创新的项目,使用现有和不断增长的全基因组和全身效果序列数据将稀有变体归为一个非常大的100,000个人群,这些人以超过650,000个单核苷酸多态性(SNP)进行了基因型。众所周知,归为变体的能力取决于参考面板中携带该变体的个体数量,但是仍然不清楚非常罕见的变体的插补效果如何。通过结合所有可用的公共参考面板,我们旨在增加通常从1000个基因组项目中使用的1,092个个体以外的10倍以外的参考受试者的数量。我们将通过应用于端粒长度来测试我们方法的有效性,该长度已在相同的100,000个基因分型的个体中进行了测量。端粒长度是反映细胞衰老的重要特征。众所周知,它会随着年龄的增长而下降,并且已经证明了与心血管疾病及其危险因素,癌症,糖尿病和死亡率的关联,但端粒长度的遗传力尚未得到充分解释。了解端粒长度的遗传因素将使对端粒生物学有更好的了解,并具有明显的健康影响。
项目成果
期刊论文数量(1)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes.
年龄相关性黄斑变性临床亚型的遗传易感性差异。
- DOI:10.1167/iovs.15-16533
- 发表时间:2015
- 期刊:
- 影响因子:4.4
- 作者:Shen,Ling;Hoffmann,ThomasJ;Melles,RonaldB;Sakoda,LoriC;Kvale,MarkN;Banda,Yambazi;Schaefer,Catherine;Risch,Neil;Jorgenson,Eric
- 通讯作者:Jorgenson,Eric
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Thomas Hoffmann的其他基金
Sequencing not required: Imputing rare variants into a cohort of 100,000 on aging
不需要测序:将罕见变异归入 100,000 个衰老队列中
- 批准号:86214058621405
- 财政年份:2013
- 资助金额:$ 19.76万$ 19.76万
- 项目类别:
Genome-wide Study of Hearing Impairment
听力障碍的全基因组研究
- 批准号:88562008856200
- 财政年份:2013
- 资助金额:$ 19.76万$ 19.76万
- 项目类别:
Genome-wide Study of Hearing Impairment
听力障碍的全基因组研究
- 批准号:86758318675831
- 财政年份:2013
- 资助金额:$ 19.76万$ 19.76万
- 项目类别:
Genome-wide Study of Hearing Impairment
听力障碍的全基因组研究
- 批准号:85673858567385
- 财政年份:2013
- 资助金额:$ 19.76万$ 19.76万
- 项目类别:
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