GENOMICS CORE

基因组核心

• 批准号: 10085600
• 负责人: JONATHAN PEVSNER
• 金额: $ 18.18万
• 依托单位: HUGO W. MOSER RES INST KENNEDY KRIEGER
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-08-01 至 2025-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10085600
• 关键词: ATAC-seq; Accreditation; Applications Grants; Area; Bioinformatics; Biological Assay; Cell Line; Cells; ChIP-seq; Clinical; Clinical Services; Code; Computers; Consultations; Cytogenetics; DNA; DNA Sequence Alteration; Data; Data Analyses; Databases; Detection; Developmental Delay Disorders; Developmental Disabilities; Educational Activities; Educational process of instructing; Educational workshop; Equipment; Etiology; Faculty; Fostering; Genetic; Genomic Library; Genomics; Genotype; Goals; Guidelines; Human Genetics; Human Subject Research; Individual; Informed Consent; Institutional Review Boards; Intellectual and Developmental Disabilities Research Centers; Intellectual functioning disability; Internships; Investments; Knowledge; Laboratories; Laboratory Research; Learning Module; Master' s Degree; Methylation; Microarray Analysis; Mission; Molecular; Mycoplasma; Natural History; Nucleotides; Phenotype; Phylogeny; Preparation; Production; Protocols documentation; RNA; RNA Interference; Reproducibility; Research; Research Design; Research Personnel; Resources; Rotation; Sequence Alignment; Services; Specimen; Technology; Testing; Training; Training Programs; United States National Institutes of Health; Universities; Variant; biobank; cluster computing; computing resources; data sharing; density; digital; education resources; established cell line; exome; experience; genome sequencing; genome wide association study; genomic data; graduate medical education; insertion/deletion mutation; interest; nano-string; nanopore; next generation sequence data; next generation sequencing; outcome forecast; protocol development; pyrosequencing; repository; single molecule; tissue culture; transcriptome sequencing; user-friendly; variant of unknown significance; web services; whole genome

PROJECT SUMMARY/ABSTRACT – GENOMICS CORE The goal of the Genomics Core is to provide IDDRC-supported projects with access to state-of-the-art technology and expertise relevant to understanding genetic factors associated with intellectual and developmental disabilities (IDD). The Genomics Core accomplishes its mission through four specific aims. In Aim 1, the Core provides consultation services for genomics research. These services include facilitating protocol development for IRB-approved human subject research, offering guidance to researchers and clinicians about study design and appropriate utilization of next-generation sequencing technologies and specialized genomics applications, and offering assistance in grant applications that involve genomics projects. The second Aim is to provide genomics services in the general areas of next-generation sequencing, genotyping, cytogenetics and chromosomal microarray analysis. This includes specialized genomic services ranging from whole exome and whole genome sequencing, RNA-seq, and ChIP-seq to single molecule sequencing. The Core offers a full-service CAP certified biorepository. For Aim 3 the Genomics Core assists with data analysis, offering guidance on the use of compute resources to store and analyze data including the interpretation of genomics data. Aim 4 is to provide educational activities and dissemination opportunities, including a variety of workshops and classes. These Specific Aims are integrated with each other and with other Cores of the IDDRC. The Genomics Core places a heavy emphasis on the etiology, natural history and prognosis of a variety of conditions associated with developmental delay and specific features of developmental disabilities. This emphasis helps IDDRC researchers to elucidate the phenotypic variations which are associated with genetic mutations (e.g., chromosomal anomalies, genomic copy number changes, single nucleotide variation and short insertions and deletions [indels]).

项目摘要/摘要-基因组学核心