Genomics and Bioinformatics Core

基因组学和生物信息学核心（GBC）：项目概要/摘要 基因组学和生物信息学核心（GBC）提供具有成本效益的分析基因组学解决方案， 为智力和发育障碍（IDD）研究人员提供生物信息学分析。的目的 GBC旨在最大限度地发挥研究人员开发新见解，诊断和治疗的潜力。 通过消除利用基因组方法的障碍，为缺碘症患者提供干预措施。 GBC拥有一支由国际知名调查人员领导的专职工作人员，他们在以下方面有着良好的记录： 以基因组学和生物信息学为重点的多学科研究。核心的基因组学小组提供 提供设备、专门知识和培训，以支持有效利用基因组技术。生物信息学 小组为组学数据开发计算工具，设计利用大型数据集的最佳实践， 提供生物医学数据科学培训。基因组测序技术的进步使研究人员 识别与IDD相关的变化。 GBC的目标是提供获得尖端技术和技术的机会和培训， 可以深入了解IDDs的遗传基础，捕获基因的高分辨率单细胞水平数据， 表达，有助于IDDS的发展和失调，并最大限度地发挥基因组的影响， 通过将基因组数据与临床、行为和病理物理学数据相结合， 知识这样，GBC将有助于理解IDDs的分子生理学， 为发展诊断和治疗干预措施创造新的机会。

Genomics and Bioinformatics Core (GBC): PROJECT SUMMARY/ABSTRACT The Genomics and Bioinformatics Core (GBC) delivers cost-effective analytical genomics solutions and bioinformatics analyses for intellectual and developmental disabilities (IDD) researchers. The objective of the GBC is to maximize the potential for researchers to develop new insights, diagnostics and therapeutic interventions for individuals with IDD by removing obstacles for leveraging genomic methods. The GBC has a dedicated staff led by internationally known investigators with an established track record in multidisciplinary research with a focus in genomics and bioinformatics. The genomics group of the Core provides equipment, expertise and training to support efficient utilization of genomics technologies. The bioinformatics group develops computational tools for omics data, designs best practices for utilizing large datasets, and provides training in biomedical data sciences. Advances in genome sequencing technologies enable researchers to identify changes that relate to IDD. The aims of the GBC are to provide access to, and training in, cutting edge techniques and technologies that can result in insights into the genetic basis of IDDs, to capture high resolution single cell level data of gene expression that contribute to development and dysregulation in IDDS and to maximize the impact of genomic information in understanding IDD by integrating genomic data with clinical, behavioral and pathophysical knowledge. In this way, the GBC will contribute to the understanding of the molecular physiology of IDDs and create new opportunities to develop diagnostics and therapeutic interventions.