Core C: Developmental Genomics-Epigenetics Core

项目摘要：发育基因组学/表观遗传学核心(DGC) 发展基因组学/表观遗传学核心(DGC)的主要目标是支持创新和 对终身智力和发育障碍(IDDS)进行的尖端基因组规模研究- 从怀孕到成年，为农村人口量身定做。在联合董事理查德博士的领导下 史密斯和杰克·迈克尔森博士，他们一起在NIH支持的实验中拥有丰富的经验 (史密斯)和计算(迈克尔森)基因组学，DGC将提供广泛的专业知识，包括 模型系统开发、高通量测序技术(例如基因组和外显子组测序， RNA测序、染色质免疫沉淀测序、甲基化测序和核糖体 测序)，以及生物信息学和结果的计算分析。这些基础服务中的每一项 设在自己的组织单位内：1)基因组学司提供高通量测序 以及阵列服务，包括外显子组和基因组测序、RNA测序(包括10倍铬 单细胞测序)和基于阵列的基因分型和甲基化服务。 理查德·史密斯，一位有成就的基因组研究人员；和2)生物信息学部门提供服务 用于质量控制、基本处理(例如，对齐、变量调用和表达式量化)，以及 用于根据阵列或测序服务生成的数据计算多基因风险分数的管道 由基因组学部门领导，由经验丰富的计算基因组学博士杰克·迈克尔森领导 调查员。DGC将利用爱荷华州人类遗传学研究所(由共同领导的 导演理查德·史密斯博士)，在教育和传播方面有很好的记录，经常 正在进行的研讨会、教程、视频和在线认证机会。区议会自成立以来，一直 已调整为HAWK-IDDRC的总体主题：跨寿命的IDD研究。特别是， 特定于发育和衰老的表观遗传特征可以通过核心的表观遗传阵列获得- 和基于测序的分析。DGC还通过提供以下方式询问内在和外在风险来源 基因组(内在)和表观遗传(外在)分析选项。最后，实现了对农村人口的关注 通过史密斯博士和迈克尔森博士在从稀有公司收集样本方面的丰富经验 人口稠密地区，亲自或通过邮件招募活动(例如，使用唾液收集工具包或 格思里卡片)。DGC的服务将与其他核心的服务相辅相成，相互促进 中心，如与临床翻译核心的招募工作，以获得生物样本，并将 支持17个由联邦政府资助的项目(每年480万美元)。总而言之，可用的专业知识和切割- DGC提供的边缘服务将通过最大限度地减少进入基因组的障碍来催化IDD研究- 神经发育和认知功能的量表研究。

PROJECT SUMMARY: DEVELOPMENTAL GENOMICS/EPIGENETICS CORE (DGC) The primary objective of the Developmental Genomics/Epigenetics core (DGC) is to support innovative and cutting-edge genome-scale research of intellectual and developmental disabilities (IDDs) across the lifespan— from conception to adulthood, tailored to a rural population. Under the leadership of co-directors Dr. Richard Smith and Dr. Jake Michaelson, who together have substantial, NIH-backed experience in experimental (Smith) and computational (Michaelson) genomics, the DGC will provide broad expertise that encompasses model system development, high-throughput sequencing technologies (e.g., genome and exome sequencing, RNA sequencing, chromatin immunoprecipitation sequencing, methylation sequencing, and ribosome sequencing), and bioinformatics and computational analysis of the results. Each of these foundational services is housed within its own organizational unit: 1) the Genomics Division provides high-throughput sequencing and array services including exome and genome sequencing, RNA-sequencing (including 10X Chromium single-cell sequencing), and array-based genotyping and methylation services under the direction of Dr. Richard Smith, an accomplished genomics investigator; and 2) the Bioinformatics Division provides services for quality control, basic processing (e.g., alignment, variant calling, and expression quantification), and pipelines for calculating polygenic risk scores from data produced by array or sequencing services generated by the genomics division, and is led by Dr. Jake Michaelson, an experienced computational genomics investigator. The DGC will utilize existing resources within the Iowa Institute for Human Genetics (led by co- director Dr. Richard Smith), which has a strong track record in education and dissemination, with regularly occurring workshops, tutorials, videos, and online certification opportunities. Since its inception, the DGC has been calibrated to the overall theme of the Hawk-IDDRC: IDD research across the lifespan. In particular, epigenetic signatures specific to development and aging are accessible through the Core's epigenetic array- and sequencing-based assays. The DGC also interrogates intrinsic and extrinsic sources of risk by offering genomic (intrinsic) and epigenetic (extrinsic) assay options. Finally, a focus on rural populations is achieved through the extensive experience of both Drs. Smith and Michaelson in collecting samples from sparsely populated areas, both in person and through mail recruitment campaigns (e.g., using saliva collection kits or Guthrie cards). Services from the DGC will complement and synergize with those of the other Cores in the Center, such as with the Clinical Translational Core in recruitment efforts to obtain biosamples, and will support 17 federally funded projects ($4.8 million per year). Collectively, the available expertise and cutting- edge services provided by the DGC will catalyze IDD research by minimizing barriers for entry into genome- scale studies of neurodevelopment and cognitive function.