Statistical Genetic Analysis of Complex Craniofacial and Dental Genetic Disorders

目前的提案寻求激活K99/R00裁决的Roo阶段(1K99DE018085)。Pl，Dr。 马尼卡·戈维尔是匹兹堡大学牙科医学院牙科中心的统计遗传学家 颅面和牙齿遗传学。她已经完成了K99阶段的职业发展目标 并准备在Roo阶段转移到一个独立的位置。制度支撑和环境 对PI的成就起到了重要作用。和平协会K99阶段工作的一个目标是获得 颅面和牙科遗传性疾病的基本知识，特别强调理解 CL/P的病因、流行病学和表型加深对CL/P和其他复合体的认识 遗传特征对于开发具有计算上可行的实现的方法至关重要，这种方法将 能够对数据中预期的异质性进行建模，以确定多基因原因。她的长期工作 目标是成为一名独立的、跨学科的研究科学家，并拥有一个资助的研究计划 将汇集统计学和计算机科学方面的专业知识，以促进我们对复杂结构的理解 像头面部和牙齿遗传性疾病这样的特征。来实现这些目标。戈维尔博士已经完成了培训 在玛丽·马拉齐塔博士和维罗妮卡·维兰德博士的指导下，在她的K99资助阶段。马拉齐塔博士是私家侦探 获得多项头面部和牙科遗传补助金，并在口腔面部研究方面拥有专业知识。Viejand博士是PI 关于复杂性状方法开发的资助，以及复杂性状分析的资助 自闭症和CL/P等特征 这项建议的实验重点是开发和实施计算 可行的统计遗传方法，特别是后验连锁概率(PPL)的扩展，a 一类无模型的基于似然的方法；这些方法与其他现有统计方法的比较 方法，以及它们在分析复杂的颅面和牙齿遗传性疾病中的应用 唇裂伴或不伴腭裂与口腔健康的差异。

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.