Molecular Phenotyping and Genotyping Core

核心6 -分子表型和基因分型：摘要 分子表型和基因分型核心的目标是支持Joslin和外部 通过提供设备，专业知识和服务，研究疾病的分子机制 在分子表型，包括核酸序列分析，基因表达和其他“组学” 这些分析过于专业化或成本太高，单个实验室无法独立进行。 以前被称为先进的基因组学和遗传学核心，分子表型核心是新的- 命名是为了表彰其分析能力的扩大，不仅反映遗传和基因组 分析以及代谢表型分析。新的核心将继续提供以前的服务 提供，包括：1。从血液中提取DNA; 2. DNA收集的保管和维护 从核心的存储库; 3. SNP基因分型; 4.生物分析仪分析DNA/RNA的质量和数量; 5. DNA剪切; 6.下一代测序文库的制备; 7.方便访问外部next- 发电排序设施; 8.使用微阵列（Affyscore）的基因表达，包括cRNA/cDNA 制备和杂交; 9.获得实时定量PCR; 10.协助研究设计和 与波士顿大学乔斯林区域计算（BUJRC）核心合作进行数据分析;11. 提供教育服务，以促进对下一代和其他组学方法的理解和使用 乔斯林社区的支持提高疾病分子机制研究能力的新服务 将包括：1.用于临床研究的遗传表征（由美国生物技术研究所开发的下一代测序测定法） 同时筛查所有已知单基因糖尿病基因的突变，并对所有已知的SNP进行分型 与T1 DM、T2 DM或糖尿病并发症相关）2.生物能量学和代谢表型 （使用Seahorse XF 24和XF 96仪器分析代谢通量，并方便获得 代谢组学平台）。3.血浆蛋白质组学（方便访问Somalogic蛋白质组学平台， BIDMC）。4.数字基因组学（通过一个新的数字PCR平台，该平台由乔斯林公司购买， RNA、DNA和非编码RNA种类的数字检测）。培训将是一个重要组成部分， 介绍这些服务，以促进调查人员和受训人员利用这些方法 一模一样。总之，这些新的举措将促进乔斯林调查人员的持续过渡， 对基础、转化和临床研究都有帮助的art表型和基因分型 问题研究

CORE 6 - MOLECULAR PHENOTYPING AND GENOTYPING : ABSTRACT The objective of the Molecular Phenotyping and Genotyping Core is to support Joslin and external investigators in the study of molecular mechanisms of disease by providing equipment, expertise, and services in molecular phenotyping, including nucleic acid sequence analyses, gene expression, and other “-omics” analyses, which would be too specialized or costly for individual laboratories to perform independently. Formerly known as the Advanced Genomics and Genetics Core, the Molecular Phenotyping Core is newly- named in recognition of the expansion of its analytical capacities to reflect not only genetic and genomic analyses but also metabolic phenotyping. The new Core will continue to provide the services previously offered, including: 1. DNA extraction from blood; 2. Curation of and maintenance of access to DNA collections from the Core's repository; 3. SNP genotyping; 4. Bioanalyzer analysis of DNA/RNA quality and quantity; 5. DNA shearing; 6. Preparation of next-generation sequencing libraries; 7. Facilitated access to external next- generation sequencing facilities; 8. Gene expression using microarrays (Affymetrix), including cRNA/cDNA preparation and hybridization; 9. Access to real-time quantitative PCR; 10. Assistance with study design and data analysis in collaboration with the Boston University-Joslin Regional Computational (BUJRC) Core;11. Educational services to facilitate the understanding and the use of next-gen and other -omics methodologies by the Joslin community. New services to enhance capacity for the study of molecular mechanisms of disease will include: 1. Genetic characterization for clinical studies (a next-gen sequencing assay developed by the core to simultaneously screen all known monogenic diabetes genes for mutations and to type all known SNPs associated with T1DM, T2DM, or diabetic complications) 2. Bioenergetics and metabolic phenotyping (analysis of metabolic flux using the Seahorse XF24 and XF96 instruments and facilitated access to metabolomics platforms). 3. Plasma proteomics (facilitated access to the Somalogic proteomic platform at BIDMC). 4. Digital genomics (through a new digital PCR platform that is being purchased by the Joslin for the digital detection of RNA, DNA, and noncoding RNA species). Training will be an important component of introduction of these services, so as to promote utilization of these approaches by investigators and trainees alike. Together, these new initiatives will facilitate the ongoing transition of Joslin investigators to state-of-the art phenotyping and genotyping that that are instrumental for both basic, translational, and clinical research studies.