Genomics and Bioinformatics Core

基因组学和生物信息学核心

基本信息

批准号：
10454193
负责人：
SUSAN M KNOBLACH
金额：
$ 14.74万
依托单位：
CHILDREN'S RESEARCH INSTITUTE
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：
2021-07-21 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10454193
关键词：
Adopted Behavioral Bioinformatics Categories Cell physiology Cells ChIP-seq Clinical Clinical Data Clinical Research Collaborations Complex DNA sequencing Data Development Diagnosis Diagnostic District of Columbia Equipment Etiology Experimental Designs Gene Expression Genes Genetic Genetic Diseases Genome Genomics Individual Intellectual and Developmental Disabilities Research Centers Intellectual functioning disability Interdisciplinary Study International Knowledge Methods Methylation Microanatomy Mission Molecular Monitor Neonatal Brain Injury Neurodevelopmental Disorder Optics Outcome Patients Pattern Phenotype Physiology Population Prevention Research Research Design Research Personnel Resolution Role Techniques Technology Therapeutic Intervention Training Training Support Training and Education Translational Research Translations Variant base bench to bedside biomedical data science clinical phenotype computerized tools cost effective design early-career faculty epigenetic regulation epigenome experience fetal genome sequencing genomic data genomic signature improved insight large datasets molecular marker multidisciplinary neurodevelopment novel transcriptomics

项目摘要

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.

基因组学和生物信息学核心 (GBC)：项目摘要/摘要基因组学和生物信息学核心 (GBC) 提供经济高效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。该计划的目标 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，对 IDD 患者进行干预。 GBC 拥有一支由国际知名调查员领导的敬业工作人员队伍，他们在以下方面拥有良好的记录：多学科研究，重点是基因组学和生物信息学。核心基因组学组提供设备、专业知识和培训，以支持基因组学技术的有效利用。生物信息学小组开发组学数据的计算工具，设计利用大型数据集的最佳实践，以及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能够识别与 IDD 相关的变更。 GBC 的目标是提供尖端技术和技术的获取和培训，可以深入了解 IDD 的遗传基础，捕获基因的高分辨率单细胞水平数据有助于 IDDS 发育和失调的表达，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、行为和病理物理相结合来了解 IDD 的信息知识。通过这种方式，GBC 将有助于理解 IDD 的分子生理学和创造新的机会来开发诊断和治疗干预措施。