High-throughput sequencer for multi-scale genomic studies

 描述(由申请人提供)： 我们建议收购一台新的Illumina HiSeq 2500 1TB高通量DNA测序仪。该仪器将位于一个服务中心的核心，为至少25个实验室和数百名斯坦福生物医学研究人员提供服务。该测序器将大大提高产量，缩短周转时间，同时大幅降低成本。此外，目前存在于DNA测序核心中的仪器已到了使用寿命的末期(根据这项赠款的最早开始日期，已超过四年)，并且缺乏满足供应商对升级资格的要求所需的硬件规格。有足够的需求使HiSeq 2500 1TB仪器以最大容量运行。本提案中强调的主要用户和次要用户范围从刚刚开始自己实验室的初级教员到拥有30多年研究经验的成熟教授。几乎所有的用户都有NIH的资助，他们的基因组研究依赖于负担得起的、可定制的超高通量下一代测序技术。用建议的仪器收集的DNA序列数据将对人类广泛的疾病和残疾产生积极影响，特别是：心血管疾病、高血压、2型糖尿病、炎症性肠道疾病、发育缺陷、癌症、睡眠障碍、精神分裂症、自闭症和衰老。其中几项调查也考察了环境压力来源。在这些研究中进行的研究将有助于为更好地解释人类基因组多态以及将新的分析和技术转化到临床铺平道路。斯坦福大学的研究人员通过这种仪器进行DNA测序分析，他们发表了非常引人注目的研究成果，因此我们预计这种仪器将对生物医学研究产生重大影响。

 DESCRIPTION (provided by applicant): We propose the acquisition of a new Illumina HiSeq 2500 1Tb high-throughput DNA sequencing instrument. The instrument will reside in a service center core and serve at a minimum 25 laboratories and hundreds of Stanford biomedical researchers. The sequencer will greatly increase throughput and shorten turnaround time while dramatically reducing costs. Moreover, the instruments that are currently present in the DNA sequencing core are at the end of their lifetimes (well over four years by the earliest start date of this grant) and lack the hardware specifications that are needed to meet the vendor's requirements for upgrade eligibility. There is sufficient demand that the HiSeq 2500 1Tb instrument will run at maximum capacity. The Major and Minor Users highlighted in this proposal range from junior faculty who are just starting their own laboratories to established full professors with over 30 years of research experience. Nearly all of the Users have NIH funding, and their genomics studies depend on affordable and customizable ultra high-throughput, next generation sequencing technologies. DNA sequence data collected with the proposed instrument will positively impact a broad cross section of human diseases and disabilities, notably: cardiovascular disease, hypertension, type 2 diabetes mellitus, inflammatory bowel diseases, developmental defects, cancer, sleep disorders, schizophrenia, autism, and aging. Several of the investigations examine environmental stressors as well. The research performed in these studies will help pave the way for better interpretations of human genome polymorphisms as well as the translation of new assays and technologies to the clinic. Stanford researchers who perform DNA sequencing assays made possible by this instrument publish very high profile studies, and so we expect this instrument to have a major impact in biomedical research.