Statistical Genetic Analysis of Complex Craniofacial and Dental Genetic Disorders

复杂颅面和牙齿遗传疾病的统计遗传分析

• 批准号: 8400389
• 负责人: Manika Govil
• 金额: $ 22.74万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-01-01 至 2015-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8400389
• 关键词: Achievement; Adopted; Algorithms; Autistic Disorder; Award; Bayesian Analysis; Bayesian Method; Cleaved cell; Cleft lip with or without cleft palate; Clinical; Complex; Complex Genetic Trait; Data; Dental Schools; Development; Environment; Environmental Risk Factor; Epidemiology; Equilibrium; Etiology; Funding; Genetic; Genetic Models; Goals; Grant; Health Status; Hereditary Disease; Heterogeneity; Instruction; Interdisciplinary Study; Knowledge; Linkage Disequilibrium; Medicine; Methods; Modeling; Nature; Oral health; Performance; Phase; Phenotype; Population Heterogeneity; Positioning Attribute; Probability; Public Health; Research; Scientist; Statistical Methods; Training; Universities; Veronica; Work; base; career development; cluster computing; computer science; craniofacial; craniofacial complex; dental genetics; genetic analysis; health disparity; heuristics; method development; orofacial; parallel computing; parallel processing; programs; research and development; statistics; trait

The current proposal seeks activation ofthe ROO phase of a K99/R00 award (1K99DE018085). The Pl, Dr. Manika Govil, is a statistical geneticist at the University of Pittsburgh School of Dental Medicine's Center for Craniofacial and Dental Genetics. She has fulfilled the career development aims planned for the K99 phase and is ready to move to an independent position in the ROO phase. The institutional support and environment have been instrumental for the Pi's achievements. A goal of the K99 phase of the Pi's work was to gain fundamental knowledge of craniofacial and dental genetic disorders, with special emphasis on understanding the etiology, epidemiology, and phenotypes of CL/P. A deeper understanding of CL/P and other complex genetic traits is critical to the development of methods with computationally feasible implementations that will be capable of modeling the expected heterogeneity in the data to identify multigenic causes. Her long-term goal is to become an independent, interdisciplinary research scientist with a funded research program that will bring together expertise in statistics and computer science to advance our understanding of complex traits like craniofacial and dental genetic disorders. To achieve these goals. Dr. Govil has completed training under Drs. Mary Marazita and Veronica Vieland during the K99-phase of her grant. Dr. Marazita is the PI on several craniofacial and dental genetic grants, and has expertise in orofacial research. Dr. Viejand is the PI on grants relating to methods development for complex traits, as well as grants for the analysis of complex traits like autism and CL/P. The experimental focus ofthis proposal is on the development and implementation of computationally feasible statistical genetic methods, in particular, extensions to the posterior probability of linkage (PPL), a model-free likelihood-based class of methods; comparison ofthese methods to other existing statistical approaches, and their application to the analysis of complex craniofacial and dental genetic disorders like cleft lip with or without cleft palate and oral health disparity.

当前的提案寻求激活K99/R00奖的ROO阶段（1K99DE018085）。 PL，博士 Manika Govil是匹兹堡大学牙科医学中心的统计遗传学家 颅面和牙齿遗传学。她已经满足了K99阶段计划的职业发展目标 并准备在ROO阶段转移到独立位置。机构支持和环境 对PI的成就有用。 PI工作的K99阶段的目标是获得 颅面和牙科遗传疾病的基本知识，特别强调理解 Cl/p的病因，流行病学和表型。对CL/P和其他复合物的更深入了解 遗传特征对于通过计算可行的实现方法开发的方法至关重要 能够对数据中的预期异质性进行建模以识别多基因原因。她的长期 目标是成为一名基于资助的研究计划的独立的跨学科研究科学家 将汇集统计和计算机科学方面的专业知识，以促进我们对复杂的理解 诸如颅面和牙科遗传疾病之类的特征。实现这些目标。 Govil博士已经完成了培训 在Drs下。玛丽·马拉齐塔（Mary Marazita）和维罗妮卡·维兰（Veronica Vieland）在她的赠款的K99期间。 Marazita博士是PI 几种颅面和牙科遗传学补助金，并在口面研究方面具有专业知识。 Viejand博士是PI 关于与复杂性状的方法开发有关的赠款，以及用于分析复杂性的赠款 自闭症和cl/p的特征。 该提案的实验重点是计算的开发和实施 可行的统计遗传学方法，尤其是后验概率的扩展（PPL），A 基于无模型的可能性类方法；这些方法与其他现有统计的比较 方法及其在分析复杂的颅面和牙科遗传疾病中的应用 有或没有口腔健康差异的唇裂唇裂。