Genetic Analysis and Manipulation Core (GAEC)

摘要 遗传分析和编辑核心(GAEC)提供经济高效、最先进的分子工具和 向国际发展研究中心调查人员提供咨询/生物信息学服务1)。所有尺度的DNA测序，2)。发展 人类神经发育疾病的细胞和动物模型的基因编辑策略，以及3)。 定量分析正常和病变细胞和组织中的基因表达。Gaec提供服务 通过其遗传分析小组(GAG)和基因编辑小组(GEG)。这个笑话给桑格提供了 测序以验证质粒构建体、测序聚合酶链式反应产物和所有需要的分子实验 DNA测序，以及用于基因组水平分析的全套分析和工具，从高通量开始 DNA提纯、定量和质量控制分析、分析DNA测试，包括Low基因分型， 中高吞吐量格式、Sanger和下一代测序(NGS)、结构变体 检测，以及低通量、中通量和高通量的基因表达研究，包括单细胞转录。 还提供了生物信息学支持。GEG使人类IDDS动物模型的发展成为可能 利用最新的基因打靶方法，专门从事小鼠基因组的基因编辑 CRISPR/Cas9(簇状规则间隔短回文重复)/(CRISPR相关蛋白) 能够生成具有点突变、插入或缺失的新型基因编辑小鼠品系 一步。还提供冷冻保存服务以及关于编辑策略和基因分型的建议。 将这些重叠的分析和编辑技术整合到单个核心设施中 多名调查员允许个别调查员使用专门的技术，并使用这些技术 识别与IDDRC相关的突变，在小鼠和细胞系中建立这些突变的模型，并测量基因的变化 在组织或单个细胞水平上的表达。将两个预先存在的核心合并为一个集成的 CORE将他们的重叠活动更好地结合在一起，并提供了更全面和完整的 向IDDRC调查人员提供服务。

ABSTRACT The Genetic Analysis and Editing Core (GAEC) provides cost-effective, state-of-the-art molecular tools and consulting/bioinformatic services to IDDRC investigators for 1). Sequencing DNA at all scales, 2). Development of gene editing strategies for cellular and animal models of human neurodevelopmental disease, and 3). Quantitative analyses of gene expression in normal and diseased cells and tissues. GAEC offers services through its Genetic Analysis Group (GAG) and the Gene Editing Group (GEG). The GAG offers Sanger sequencing to validate plasmid constructs, sequence PCR products and for all molecular experiments requiring DNA sequencing, and a full suite of assays and tools for genomic-level analysis, starting with high throughput DNA purification, quantification and quality control assays, analytical DNA testing including genotyping in low, medium and high throughput formats, Sanger and next generation sequencing (NGS), structural variant detection, and low, medium and high throughput gene expression studies including single cell transcriptomics. Bioinformatic support is also provided. The GEG enables the development of animal models of human IDDs utilizing the latest gene targeting approaches and specializes in gene editing of the mouse genome via CRISPR/Cas9 (Clustered regularly interspaced short palindromic repeat)/(CRISPR associated protein) which enables generation of novel gene-edited mouse lines with point mutations, insertions or deletions in a single step. A cryopreservation service is also offered as well as advice on editing strategies and genotyping. Consolidation of these overlapping analytic and editing technologies within a single core facility serving multiple investigators allows individual investigators access to specialized techniques and to use these to identify IDDRC related mutations, model these in mice and cell lines, and measure changes in gene expression in tissues or at a single cell level. The combination of two pre-existing cores into a single integrated core brings their overlapping activities into better alignment and offers a more comprehensive and complete service to IDDRC investigators.