Genetics and Genomics of Human Disease

描述（由申请人提供）：持续支持，要求在人类遗传学和基因组学的耶鲁大学博士前培训计划的35-40年。该方案涉及来自15个部门的49名培训员。绝大多数培训师是医学院遗传学系的主要和联合任命人员，在过去的资助期内，几乎所有的学员都被耶鲁大学生物和生物医学科学的分子细胞生物学，遗传学和发展轨道（MCGD）录取。拟议培训的重点是利用遗传和基因组方法了解人类疾病。所使用的主要方法是新开发的用于人类性状基因座发现的下一代测序方法，辅之以生物信息学和计算分析。该计划的重点是与模型系统遗传学和基因组学的整合，可用于定义将基因突变与疾病表型联系起来的途径。为此，对苍蝇、蠕虫、斑马鱼、小鼠和诱导多能干细胞进行遗传和基因组分析的研究人员在该培训补助金中发挥了重要作用。这种综合培训环境旨在为学员提供广泛的遗传学和基因组学知识，以及丰富的培训环境，为他们从事科学职业做好准备。被录取的学生有很强的科学背景和研究经验，具有很高的学术成就。第一年的学生由耶鲁大学资助;学生在第二年和第三年获得培训补助金，此后获得培训学院实验室的资金，直到毕业。第一年的培训包括正式的课程工作和研究轮换，导致选择 论文指导老师和实验室在第二年，学生完成课程作业，并参加资格考试，他们必须证明掌握遗传学和捍卫两个书面研究提案。随后的几年致力于论文研究，实验和分析技能的发展，沿着书面和口头陈述的能力，导致书面论文的准备。此外，学生参与监督教学经验。要求提供5年的支持，以支持7名博士。学生每年谁是在他们的培训年2和3。学员的成果被记录在案，并表明在完成博士学位，在高影响力的期刊上发表作品，并让绝大多数毕业生继续从事科学研究。

DESCRIPTION (provided by the applicant): Continuing support is requested for years 35-40 of the Yale Predoctoral Training Program in Human Genetics and Genomics. The program involves 49 trainers from 15 departments. The vast majority of trainers are primary and joint appointees in the Department of Genetics at the School of Medicine, and virtually all of the trainees over the last funding period have been matriculated in the Molecular Cell Biology, Genetics & Development Track (MCGD) in Biological and Biomedical Sciences at Yale. The focus of the training proposed is the use of genetic and genomic approaches to understand human disease. The main methods used are newly developed next generation sequencing methods for human trait locus discovery, complemented by bioinformatics and computational analysis. An emphasis of the program is integration with model system genetics and genomics, which can be used to define pathways that link gene mutations to disease phenotypes. To this end, investigators performing genetic and genomic analysis of flies, worms, zebrafish, mouse and induced pluripotent stem cells play a major role in this Training Grant. This integrated training environment is intended to provide trainees with broad exposure to genetics and genomics and a rich training environment that prepares them for careers in science. Admitted students have strong scientific backgrounds and research experience with high academic achievement. First year students are supported by Yale; students are supported by the training grant in years 2 and 3, and thereafter by funds in Training Faculty laboratories until graduation. Training in the first year includes formal course work and research rotations, leading to selection of the thesis advisor and laboratory. In the second year, students complete course work, and take a qualifying exam in which they must demonstrate mastery of genetics and defend two written research proposals. Subsequent years are devoted to dissertation research, development of experimental and analytic skills, along with ability in written and oral presentation, leading to preparation of the written thesis. In addition, students engage in supervised teaching experiences. Support is requested for 5 years for support of 7 Ph.D. students per year who are in years 2 and 3 of their training. Outcomes of trainees are documented and indicate high success in completion of the Ph.D., publication of work in high impact journals, and continuation in science of the vast majority of graduating students.