Core C: Developmental Genomics-Epigenetics Core

核心C：发育基因组学-表观遗传学核心

基本信息

批准号：
10238633
负责人：
Jacob James Michaelson
金额：
$ 24.01万
依托单位：
UNIVERSITY OF IOWA
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-16 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10238633
关键词：
Adopted Adult Aging Animal Model Animals Area Back Basic Science Bioinformatics Biological Biological Assay Biological Models Cell Nucleus Cells Certification ChIP-seq Chromium Clinical Clinical Research Code Collection Communities Complement Complex Computer Analysis Computer software Conceptions Country DNA Methylation DNA methylation profiling Data Data Analyses Data Pooling Data Set Development Diagnosis Education Educational workshop Ensure Epigenetic Process Equipment Exons Foundations Funding Genetic Genome Genomics Genotype Hawks High-Throughput Nucleotide Sequencing Human Human Genetics Institutes Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Iowa Laboratories Leadership Longevity Machine Learning Manuals Meta-Analysis Methodology Methylation Microarray Analysis Mus Organization administrative structures Persons Pharmaceutical Preparations Prevention Protein Isoforms Quality Control Rattus Reproducibility Research Research Personnel Research Project Grants Resources Ribosomes Risk Rural Population Saliva Sampling Services Small Nuclear RNA Source Standardization Systems Development Technology Tissues Training United States National Institutes of Health Universities Variant Zebrafish analysis pipeline analytical method base bioinformatics resource cognitive function computing resources cost effectiveness data format differential expression epigenomics exome sequencing experience experimental study genome sequencing genome-wide genomic data human model human tissue innovation insight methylome neurodevelopment novel polygenic risk score programs recruit research study service utilization single cell sequencing single-cell RNA sequencing tool training opportunity transcriptome transcriptome sequencing whole genome

Adopted Adult Aging Animal Model Animals Area Back Basic Science Bioinformatics Biological Biological Assay Biological Models Cell Nucleus Cells Certification ChIP-seq Chromium Clinical Clinical Research Code Collection Communities Complement Complex Computer Analysis Computer software Conceptions Country DNA Methylation DNA methylation profiling Data Data Analyses Data Pooling Data Set Development Diagnosis Education Educational workshop Ensure Epigenetic Process Equipment Exons Foundations Funding Genetic Genome Genomics Genotype Hawks High-Throughput Nucleotide Sequencing Human Human Genetics Institutes Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Iowa Laboratories Leadership Longevity Machine Learning Manuals Meta-Analysis Methodology Methylation Microarray Analysis Mus Organization administrative structures Persons Pharmaceutical Preparations Prevention Protein Isoforms Quality Control Rattus Reproducibility Research Research Personnel Research Project Grants Resources Ribosomes Risk Rural Population Saliva Sampling Services Small Nuclear RNA Source Standardization Systems Development Technology Tissues Training United States National Institutes of Health Universities Variant Zebrafish analysis pipeline analytical method base bioinformatics resource cognitive function computing resources cost effectiveness data format differential expression epigenomics exome sequencing experience experimental study genome sequencing genome-wide genomic data human model human tissue innovation insight methylome neurodevelopment novel polygenic risk score programs recruit research study service utilization single cell sequencing single-cell RNA sequencing tool training opportunity transcriptome transcriptome sequencing whole genome

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项目摘要

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.

项目摘要：发育基因组学/表观遗传学核心（DGC）发育基因组学/表观遗传学核心（DGC）的主要目标是支持创新和整个生命周期的智力和发育障碍（IDD）的尖端基因组规模研究 - 从概念到成年，量身定制为农村人口。在联合导演理查德博士的领导下史密斯（Smith）和杰克·迈克尔森（Jake Michaelson）博士，他们在实验中共同拥有丰富的NIH支持经验（史密斯）和计算（Michaelson）基因组学，DGC将提供包含的广泛专业知识模型系统开发，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）以及结果的生物信息学和计算分析。这些基础服务中的每一个位于其自己的组织单元中：1）基因组学部提供高通量测序和阵列服务，包括外显子和基因组测序，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在博士的指导下理查德·史密斯（Richard Smith），一位有成就的基因组研究者； 2）生物信息学部提供服务为了进行质量控制，基本处理（例如，对齐，变体呼叫和表达量化）和用于从数组或生成的测序服务产生的数据计算多基因风险评分的管道由基因组学部门，由经验丰富的计算基因组学杰克·迈克尔森（Jake Michaelson）博士领导研究者。 DGC将利用爱荷华州人类遗传学研究所内的现有资源（由共同领导导演理查德·史密斯（Richard Smith）博士），在教育和传播方面具有良好的记录，并定期发生的研讨会，教程，视频和在线认证机会。自成立以来，DGC拥有在整个生命周期中都校准了Hawk-Iddrc：IDD研究的整体主题。尤其，通过核心的表观遗传阵列可访问特定于发育和衰老的表观遗传学特征和基于测序的测定法。 DGC还通过提供固有和外在的风险来源来询问基因组（内在）和表观遗传（外部）测定选项。最后，关注民众的重点通过两家DR的丰富经验。史密斯和迈克尔森从稀疏中收集样品个人和通过邮件招聘活动（例如，使用唾液收集套件或 Guthrie卡）。 DGC的服务将与其他核心的其他核心协同作用中心，例如在招聘工作中的临床翻译核心以获取生物样本的努力，并将支持17个联邦资助的项目（每年480万美元）。总体而言，可用的专业知识和裁缝 - DGC提供的边缘服务将通过最大程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。