FGI: Acquisition of an Illumina Genome Analyzer System for Functional Genomic Res

描述（由申请人提供）：生物医学研究中最令人兴奋的进展之一是基因组生物学的引入，它使研究人员能够以高分辨率获得全球视野。下一代（NextGen）测序仪的发明极大地加速了基因组技术与其他研究领域的整合，并从根本上将基因组中心的能力带入了单个研究实验室。下一代测序技术彻底改变了分子生物学、遗传学和基因组学的世界。所要求的仪器将改变来自广泛学科的科学家进行研究的方式，以了解人类疾病的分子机制，包括疾病基因克隆，癌症，基因表达，剪接，发育和分化以及表观遗传学。我们将把该系统应用于几种不同的技术，包括：1)通过ChIP-Seq识别转录因子的直接下游靶点；2)利用RNA-Seq对人体组织和模式生物进行转录组分析；3)利用全基因组和靶向捕获深度测序技术鉴定和克隆人类疾病基因；4)通过剪接结测序研究选择性剪接与人类疾病；5)通过全基因组硫酸氢盐测序和组蛋白修饰检测表观基因组，研究环境和营养对妊娠、发育和疾病的影响。由于参与的pi都从事基础和临床研究，其中有三位拥有医学博士学位，我们相信单分子测序（SMS）技术的引入将对许多医学相关领域产生直接、强烈和即时的影响。

DESCRIPTION (provided by applicant): One of the most exciting advances in biomedical research is the introduction of genome biology, which enables the researcher to gain a global view at high resolution. The invention of next generation (NextGen) sequencers greatly accelerates the integration of genome technology into other research fields and essentially brings the genome center capacity to individual research laboratories. NextGen sequencing has revolutionized the world of molecular biology, genetics, and genomics. The requested instrument will transform the way scientists from a broad range of disciplines conduct research to understand the molecular mechanisms of human diseases, including disease gene cloning, cancer, gene expression, splicing, development and differentiation, and epigenetics. We will apply the system to several different technologies, including: 1) identifying direct downstream targets of transcription factors by ChIP-Seq; 2) performing transcriptome analysis of human tissues and model organisms by RNA-Seq; 3) identifying and cloning human disease genes by whole genome and targeted capture deep sequencing; 4) investigating alternative splicing and human diseases by splicing junction sequencing; and 5) examining affects of environment and nutrition on pregnancy, development, and disease by examining the epigenome through whole genome bisulfate sequencing and histone modifications. As the participating PIs all engage in both basic and clinical research including three who hold an M.D. degree, we believe the introduction of the single molecule sequencing (SMS) technology will have direct, strong, and immediate impact on many medically relevant fields.