Quantitative Methods for Genetic Epidemiology
遗传流行病学的定量方法
基本信息
- 批准号:6460085
- 负责人:
- 金额:$ 27.02万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2002
- 资助国家:美国
- 起止时间:2002-04-01 至 2006-03-31
- 项目状态:已结题
- 来源:
- 关键词:computer program /software computer system design /evaluation family genetics gene environment interaction gene expression genetic disorder genetic models genetic polymorphism genetic susceptibility human data human population genetics linkage disequilibriums mathematical model model design /development phenotype quantitative trait loci statistics /biometry
项目摘要
The recent sequencing of the human genome [l, 2] provides a unique opportunity to change the way we understand common human diseases, and ultimately improve diagnosis, prognosis, and treatment of disease [3]. Complex genetic mechanisms that contribute to common diseases pose a significant challenge that must be met with novel analytic methods based on a sound theoretical foundation of biological and statistical principles. The potential benefits of our proposed research are great when measured in terms of public health, with anticipated improvements in the way that genetic mechanisms are discovered and evaluated for common complex human diseases. Our overall objectives are to facilitate analyses of complex genetic mechanisms by developing innovative statistical methods and software that can be used by biomedical researchers as outlined in our four specific aims: Aim 1. Develop and evaluate probability models for haplotypes in order to improve our understanding of the complex structure of haplotypes in human populations and provide methods to account for ambiguous haplotypes when they are not directly observed due to unknown phase of diploid phenotypes. Aim 2. Haplotypes and other complex genetic mechanisms for case- control studies: Build statistical genetic models to evaluate the relative contribution of complex genetic mechanisms (haplotypes and metabolic pathways) and environmental risk factors to disease, as evaluated by standard case-control study designs. Aim 3. Haplotypes and other complex genetic mechanisms for family- based studies: The methods developed in Aims 1 & 2 will be extended to family-based study designs, including a hybrid design that combines the strengths of case-control and family-based designs, increasing power to detect genes of small effects. Aim 4. Develop user-friendly software that implements our methods and make them widely available to biomedical researchers, including well-documented procedures and examples on their usage.
最近人类基因组的测序[1,2]提供了一个独特的机会来改变我们理解常见人类疾病的方式,并最终改善疾病的诊断,预后和治疗[3]。导致常见疾病的复杂遗传机制构成了一个重大挑战,必须采用基于生物学和统计学原理的良好理论基础的新型分析方法。从公共卫生的角度来看,我们拟议的研究的潜在好处是巨大的,预计将改善发现和评估常见复杂人类疾病的遗传机制的方式。我们的总体目标是通过开发创新的统计方法和软件来促进复杂遗传机制的分析,这些方法和软件可供生物医学研究人员使用,如我们的四个具体目标所述:目标1。开发和评估单倍型的概率模型,以提高我们对人类群体中单倍型复杂结构的理解,并提供方法来解释由于二倍体表型的未知阶段而无法直接观察到的模糊单倍型。目标二。用于病例对照研究的单倍型和其他复杂遗传机制:建立统计遗传模型,以评估复杂遗传机制(单倍型和代谢途径)和环境风险因素对疾病的相对贡献,如标准病例对照研究设计所评估的那样。目标3。用于基于家族的研究的单倍型和其他复杂遗传机制:目标1和2中开发的方法将扩展到基于家族的研究设计,包括结合病例对照和基于家族的设计优势的混合设计,提高检测能力影响小的基因。目标4。开发用户友好的软件,实现我们的方法,并使其广泛提供给生物医学研究人员,包括有据可查的程序和使用实例。
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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Daniel J. Schaid其他文献
Barrett's esophagus: A familial disorder?
- DOI:
10.1016/s0016-5085(00)82962-5 - 发表时间:
2000-04-01 - 期刊:
- 影响因子:
- 作者:
Yvonne Romero;Alan J. Cameron;Lawrence J. Burgart;Cynthia L. Hardtke;Daniel J. Schaid;Shannon K. McDonnell;Ijeoma Azodo;Giles R. Locke;Joseph A. Murray - 通讯作者:
Joseph A. Murray
Associations of Self-Reported Race, Social Determinants of Health, and Polygenic Risk With Coronary Heart Disease
自我报告的种族、健康的社会决定因素以及多基因风险与冠心病的关联
- DOI:
10.1016/j.jacc.2024.06.052 - 发表时间:
2024-11-26 - 期刊:
- 影响因子:22.300
- 作者:
Kristjan Norland;Daniel J. Schaid;Mohammadreza Naderian;Jie Na;Iftikhar J. Kullo - 通讯作者:
Iftikhar J. Kullo
Principles and methods for transferring polygenic risk scores across global populations
跨全球人群转移多基因风险评分的原理和方法
- DOI:
10.1038/s41576-023-00637-2 - 发表时间:
2023-08-24 - 期刊:
- 影响因子:52.000
- 作者:
Linda Kachuri;Nilanjan Chatterjee;Jibril Hirbo;Daniel J. Schaid;Iman Martin;Iftikhar J. Kullo;Eimear E. Kenny;Bogdan Pasaniuc;John S. Witte;Tian Ge - 通讯作者:
Tian Ge
471: Effect of a Family History of Prostate Cancer on Outcome After Radical Retropubic Prostatectomy
- DOI:
10.1016/s0022-5347(18)37733-4 - 发表时间:
2004-04-01 - 期刊:
- 影响因子:
- 作者:
Gregory S. Schenk;Horst Zincke;Jeffrey M. Slezak;Erik J. Bergstralh;Daniel J. Schaid;Stephen N. Thibodeau;Michael L. Blute - 通讯作者:
Michael L. Blute
Enhancing polygenic scores for cardiometabolic traits through tissue- and cell-type-specific functional annotations
通过组织和细胞类型特异性功能注释增强心脏代谢特征的多基因评分
- DOI:
10.1016/j.xhgg.2025.100427 - 发表时间:
2025-07-10 - 期刊:
- 影响因子:3.600
- 作者:
Kristjan Norland;Daniel J. Schaid;Iftikhar J. Kullo - 通讯作者:
Iftikhar J. Kullo
Daniel J. Schaid的其他文献
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{{ truncateString('Daniel J. Schaid', 18)}}的其他基金
Quantitative methods for genetic linkage heterogeneity
遗传连锁异质性的定量方法
- 批准号:
7318339 - 财政年份:2004
- 资助金额:
$ 27.02万 - 项目类别:
Quantitative methods for genetic linkage heterogeneity
遗传连锁异质性的定量方法
- 批准号:
7007291 - 财政年份:2004
- 资助金额:
$ 27.02万 - 项目类别:
Quantitative methods for genetic linkage heterogeneity
遗传连锁异质性的定量方法
- 批准号:
6846048 - 财政年份:2004
- 资助金额:
$ 27.02万 - 项目类别:
Quantitative methods for genetic linkage heterogeneity
遗传连锁异质性的定量方法
- 批准号:
6731681 - 财政年份:2004
- 资助金额:
$ 27.02万 - 项目类别:
REGRESSION MODELS FOR LINKAGE:TRAITS, COVARIATES, HETEROGENEITY, INTERACTION
关联回归模型:特征、协变量、异质性、交互作用
- 批准号:
6977698 - 财政年份:2004
- 资助金额:
$ 27.02万 - 项目类别: