Training Program in Genomic Medicine

基因组医学培训计划

• 批准号: 10632018
• 负责人: Lynn Jorde
• 金额: $ 30.53万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-06-01 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10632018
• 关键词: Genomic medicine; Training Programs

ABSTRACT The T32 Genomic Medicine Training Program at the University of Utah prepares pre- and postdoctoral trainees to be well-rounded, collaborative leaders in genomic medicine. Building on a strong institutional record of training in genomics and the unique training environment of the multidisciplinary Center for Genomic Medicine at University of Utah Health, the two-year basic research track training program consists of coursework, a mentored research experience, experiential learning activities, extensive interactions with a broad community of genomic medicine researchers, and career development activities. Core courses cover the ethical, legal and social implications of genomic medicine, grant writing techniques, and practical skills for applying computational tools for disease-gene discovery and patient genome interpretation. A mentored genomic medicine research experience in a team science environment is the heart of the training program. Each trainee will have a multidisciplinary mentoring committee, drawn from a mentor pool of 34 MD and PhD genomic medicine researchers. This highly collaborative mentor community possesses expertise in the many disciplines that underpin genomic medicine, including human genetics, bioinformatics, epidemiology, statistics, molecular diagnostics, and pharmacogenomics. Trainees will benefit from several unique resources and collaborators in the Center for Genomic Medicine: the Utah Genome Project, an independently funded research project in which thousands of members of large Utah disease pedigrees are undergoing whole-genome sequencing; the Utah Center for Genetic Discovery, the University’s computational genomics engine and hub for development of software tools and algorithms for genome interpretation; ARUP Laboratories, the University’s national reference lab and a leader in developing genomics-based clinical diagnostic tests; the Penelope Program, the University’s clinic for rare and undiagnosed disease, which is part of the Undiagnosed Disease Network; the Utah NeoSeq Project, an initiative to bring rapid whole genome sequencing to the neonatal intensive care unit; and the Huntsman Cancer Institute, a National Cancer Institute Designated Comprehensive Cancer Center and home to extensive cancer genomics and precision oncology projects. Each of these will provide immersion opportunities in genomic medicine. The overall goals of the T32 program are: to teach trainees to apply cutting-edge bioinformatics and computational tools to analyze genomic datasets; to work productively with interdisciplinary teams in the clinical application of genomic data; to protect and communicate effectively with research participants; and to advance an independent research career in genomic medicine. At steady state, the training program will include five predoctoral and four postdoctoral trainees each year. In the past funding period, nine postdoctoral trainees were appointed, advancing their careers in genomic medicine. Trainee outcomes data are tracked, and best practices and course materials will be disseminated across the NHGRI training network.

摘要 犹他州大学的T32基因组医学培训项目为博士前和博士后学员提供培训。 成为基因组医学领域全面合作的领导者。以强大的机构培训记录为基础 在基因组学和独特的培训环境的多学科中心基因组医学在 犹他州卫生大学，为期两年的基础研究跟踪培训计划包括课程，一个指导 研究经验，体验式学习活动，与广泛的基因组社区的广泛互动 医学研究人员和职业发展活动。核心课程包括道德、法律的和社会 基因组医学的含义，拨款写作技巧，以及应用计算工具的实际技能 用于疾病基因发现和患者基因组解读。一项指导性的基因组医学研究 在团队科学环境中的经验是培训计划的核心。每个学员都将有一个 多学科指导委员会，从34名基因组医学博士和博士的导师库中选出 研究人员这个高度协作的导师社区拥有许多学科的专业知识， 支持基因组医学，包括人类遗传学，生物信息学，流行病学，统计学，分子生物学， 诊断学和药物基因组学。学员将受益于几个独特的资源和合作者， 基因组医学中心：犹他州基因组计划，一个独立资助的研究项目， 犹他州大型疾病谱系的数千名成员正在接受全基因组测序;犹他州 遗传发现中心，该大学的计算基因组学引擎和中心的发展， 软件工具和基因组解释算法; ARUP实验室，大学的国家参考 实验室和开发基于基因组学的临床诊断测试的领导者;佩内洛普计划，该大学的 罕见和未确诊疾病的诊所，这是未确诊疾病网络的一部分;犹他州NeoSeq 项目，一项将快速全基因组测序带到新生儿重症监护病房的倡议;以及 亨斯迈癌症研究所，国家癌症研究所指定的综合癌症中心， 广泛的癌症基因组学和精确肿瘤学项目。每一个都将提供沉浸的机会 在基因组医学中。T32计划的总体目标是：教学员应用尖端技术， 生物信息学和计算工具来分析基因组数据集;与跨学科的 基因组数据的临床应用团队;保护研究并与研究有效沟通 参与者;并推进基因组医学的独立研究事业。在稳定状态下，训练 该计划每年将包括五名博士前和四名博士后学员。在过去的一段时间里，9 任命了博士后学员，推动他们在基因组医学方面的职业发展。培训生结果数据是 最佳做法和课程材料将在整个国家人类遗传资源研究所培训网络中传播。

项目成果

Large-scale F0 CRISPR screens in vivo using MIC-Drop.

• DOI: 10.1038/s41596-023-00821-y
• 发表时间: 2023-06
• 期刊: NATURE PROTOCOLS
• 影响因子: 14.8
• 作者: Parvez, Saba;Brandt, Zachary J. J.;Peterson, Randall T. T.
• 通讯作者: Peterson, Randall T. T.

CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.

• DOI: 10.1371/journal.pone.0241253
• 发表时间: 2021
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Wallace AD;Sasani TA;Swanier J;Gates BL;Greenland J;Pedersen BS;Varley KE;Quinlan AR
• 通讯作者: Quinlan AR

Effective variant filtering and expected candidate variant yield in studies of rare human disease.

• DOI: 10.1038/s41525-021-00227-3
• 发表时间: 2021-07-15
• 期刊: NPJ genomic medicine
• 影响因子: 5.3
• 作者: Pedersen BS;Brown JM;Dashnow H;Wallace AD;Velinder M;Tristani-Firouzi M;Schiffman JD;Tvrdik T;Mao R;Best DH;Bayrak-Toydemir P;Quinlan AR
• 通讯作者: Quinlan AR

The mutational dynamics of short tandem repeats in large, multigenerational families.

• DOI: 10.1186/s13059-022-02818-4
• 发表时间: 2022-12-12
• 期刊: Genome biology
• 影响因子: 12.3

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

父母年龄和聚合物组成对短串联重复从头突变率的影响。

• DOI: 10.1101/2023.12.22.573131
• 发表时间: 2023
• 期刊: bioRxiv : the preprint server for biology
• 作者: Goldberg,MichaelE;Noyes,MichelleD;Eichler,EvanE;Quinlan,AaronR;Harris,Kelley
• 通讯作者: Harris,Kelley