P30 Core Grant for Vision Research

P30 视觉研究核心资助

• 批准号: 10469485
• 负责人: Eric A Pierce
• 金额: $ 17.24万
• 依托单位: MASSACHUSETTS EYE AND EAR INFIRMARY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10469485
• 关键词: Collaborations; Copy Number Polymorphism; Core Grant; Data; Dideoxy Chain Termination DNA Sequencing; Discipline; Disease; Ear; Ensure; Exons; Eye; Eye diseases; Genes; Genetic; Genomics; Genotype; Glaucoma; Goals; Human Resources; Inherited; Investigation; Ligation; Methods; Mitochondrial DNA; Productivity; Research; Research Personnel; Resource Allocation; Resources; Role; Scientist; Services; Site; Technology; TimeLine; Translational Research; Variant; Vision; Vision research; career; career development; comparative genomic hybridization; cost; data acquisition; density; exome sequencing; experience; experimental study; genome-wide; genomic data; improved; next generation sequencing; optic nerve disorder; programs; ranpirnase; transcriptome sequencing; translational study; vision science

Project Summary- Genomics Core Genomic technologies have broadly impacted vision science and have a crifical role in most ofthe research programs carried out at Mass Eye and Ear. The Genomics core provides access to state-of- the-art genomic resources at low cost. Direct access to the Genomics core resources and expertise makes it possible for investigators to efficiently obtain high-quality data and eliminates the long queues for services such as next-generation sequencing frequently experienced at off-site centers. Importantly, the expert Genomics core personnel can help investigators plan appropriate experiments and assist with analyses (including troubleshooting)-services that would not be readily available elsewhere. The efficient timeline for data acquisition increases the overall productivity of the core investigators as well as improves the quality of the research. Genomic data is an important feature of many of the MEEI research programs and is especially important for the translational studies. The Genomics core personnel are experts in the genetics and genomics of eye disease, creating opportunities for collaboration among investigators using this resource. Overall direct access to Genomics core personnel and resources greatly enhances the quality of the research and ultimate accomplishments of the core investigators. The Genomics core is directed by Dr. Eric Pierce, an expert in the genetics and genomics of inherited ocular disease. Services provided by the Genomics core includes: Sanger sequencing, whole exome sequencing, selective exon capture and next generation sequencing (NGS) for ocular disease genes (RetNeT, glaucoma, optic neuropathy, mitochondrial DNA), genome-wide genotyping (both common and rare variation), copy number variation (CNV) using array CGH (comparative genomic hybridization), high-density genotypes and MLPA (multiplex ligation-dependent probe amplification), and RNA sequencing (RNA-seq) for transcriptome analyses.

项目摘要 - 基因组学核心 基因组技术已广泛影响视力科学，并在大多数 研究计划在大众眼和耳朵上进行。基因组学核心可访问 ART基因组资源低成本。直接访问基因组学核心资源和专业知识 使研究人员可以有效地获得高质量的数据并消除长期 诸如下一代测序等服务的队列经常在现场中心经历。 重要的是，专家基因组学核心人员可以帮助调查人员计划适当的实验 并协助进行分析（包括故障排除） - 不容易获得的服务 别处。数据获取的有效时间表提高了核心的整体生产率 研究人员以及提高了研究质量。基因组数据是 许多MEEI研究计划，对于翻译研究尤为重要。这 基因组学核心人员是眼科遗传学和基因组学专家 使用此资源之间合作的机会。总体直接访问 基因组学核心人员和资源大大提高了研究的质量和最终 核心研究人员的成就。基因组学核心是由Eric Pierce博士指导的 遗传性眼疾病的遗传学和基因组学专家。基因组学提供的服务 核心包括：Sanger测序，整个外显子组测序，选择性外显子捕获和下一个 眼科疾病基因的生成测序（NGS）（Retnet，青光眼，视神经病变， 线粒体DNA），全基因组基因分型（常见和罕见变化），拷贝数 使用阵列CGH（比较基因组杂交），高密度基因型和 MLPA（多重连接依赖性探针扩增）和RNA测序（RNA-SEQ） 转录组分析。