Statistical Genetic Analysis of Complex Craniofacial and Dental Genetic Disorders

描述（由申请人提供）：候选人：Manika Govil博士是一名统计遗传学家，目前正在匹兹堡大学牙科医学院颅面和牙科遗传学中心（CCDG）接受博士后培训。她以前的研究集中在后验概率的连锁（PPL）的扩展，并包括唇裂/腭裂（CL/P）家庭数据的贝叶斯重新分析。她的短期目标是获得颅面和牙齿遗传（CFDG）疾病的基础知识，特别强调了解CL/P的病因学，流行病学和表型CL/P和其他复杂的遗传性状的更深入的了解是至关重要的方法与计算上可行的实现，将能够建模的预期异质性的数据，以确定多基因的原因。她的长期目标是成为一个独立的，跨学科的研究科学家与资助的研究计划，将汇集在统计学和计算机科学的专业知识，以促进我们对复杂的性状，如CFDG疾病的理解。环境：CCDG正在提供NIDCR资助的赠款，检查颅面和牙齿疾病。匹兹堡大学在为博士后研究员和研究助理提供卓越的研究和职业发展培训方面有着悠久的历史。导师和顾问：玛丽Marazita博士将担任该奖项的主要导师。她是几个CFDG赠款的首席研究员，并在orofacial研究的专业知识。维罗妮卡·维兰德博士，统计遗传学专家，将担任该补助金的共同导师她是与复杂性状方法开发有关的赠款的主要研究者，以及自闭症和CL/P等复杂性状分析的赠款金此外，杰弗里·奥康奈尔博士和丹尼尔·威克斯博士将为戈维尔博士的培训和研究计划做出贡献。O 'Connell博士和Weeks博士都具有统计遗传分析计算方面的专业知识。研究职业发展计划：除了与导师/顾问在其专业领域进行的一系列教程外，Govil博士还将参加主题领域相关的研讨会，研讨会和社会会议。研究报告：该项目的目的是开发计算上可行的统计遗传学方法，并将其应用于复杂的CFDG疾病的分析。公共卫生相关性：复杂的遗传特征，包括颅面和牙齿遗传疾病，如CL/P，构成了重大的公共卫生负担。该项目的目的是通过开发，计算实施和应用分析，能够模拟遗传因素的统计方法来进一步了解CL/P和其他复杂性状，其中可能有/没有可能的环境因素，可能对这些性状负责。

DESCRIPTION (provided by applicant): Candidate: Dr. Manika Govil is a statistical geneticist currently undergoing postdoctoral training at the University of Pittsburgh School of Dental Medicine's Center for Craniofacial and Dental Genetics (CCDG). Her prior research focuses on extensions of the posterior probability of linkage (PPL), and includes a Bayesian reanalysis of cleft lip with/out cleft palate (CL/P) family data. Her short-term goal is to gain fundamental knowledge of craniofacial and dental genetic (CFDG) 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 CFDG disorders. Environment: CCDG has ongoing NIDCR-funded grants examining craniofacial and dental disorders. The University of Pittsburgh has a long-standing track record of providing postdoctoral fellows and research associates with exceptional research and career development training. Mentors & Consultants: Dr. Mary Marazita will serve as the primary mentor for this award. She is the principal investigator on several CFDG grants, and has expertise in orofacial research. Dr. Veronica Vieland, an expert in statistical genetics, will serve as co-mentor on this grant She is the principal investigator on grants relating to methods development for complex traits, as well as grants for the analysis of complex traits like autism and CL/P. In addition, Drs. Jeffrey O'Connell and Daniel Weeks will contribute to Dr. Govil's training and research plan. Both Drs. O'Connell and Weeks have expertise in computational aspects of statistical genetic analysis. Research Career Development Plan: In addition to a series of tutorials conducted with the mentors/consultants in their areas of expertise, Dr. Govil will also participate in subject area relevant workshops, seminars, and society meetings. Research Study: The aim of this project is to develop computationally feasible statistical genetic methods and apply them to the analysis of complex CFDG disorders. Public Health Relevance: Complex genetic traits including craniofacial and dental genetic disorders like CL/P constitute a significant public health burden. The aim of this project is to further our understanding of CL/P and other complex traits by developing, implementing computationally, and applying in analyses, statistical methods that are capable of modelling genetic factors, with/out possible environmental factors, that may be responsible for such traits.