NHGRI/DIR Bioinformatics and Scientific Programming Core

NHGRI生物信息学和科学编程核心通过提供生物信息学和计算分析方面的专业知识和援助，积极支持NHGRI研究人员正在进行的研究。该核心促进获得专门的软件和硬件，开发可解决基因组研究中各种问题的通用软件解决方案，开发用于有效存档和检索实验和临床数据的数据库解决方案，向整个基因组社区传播新的软件和数据库解决方案，与NHGRI的研究人员在计算密集型项目上合作，并向NHGRI的研究人员和受训人员提供生物信息学方面的教育机会。 2007-2008年完成的科学项目包括为数据重新格式化开发各种Perl脚本，对CGH定制寡核苷酸阵列进行重新注释，开发基于网络的调查以衡量医生对基因变异如何影响患者治疗选择的意见，确定逆转录病毒整合位点的基因组背景，确定MITF和Sox10转录因子的全基因组共识结合序列，对Sox10基因进行进化分析，确定Hermansky-Pudlak综合征相关基因的调控序列，为多中心肺癌研究和遗传性乳腺癌研究开发基于网络的问卷，为参与多元行动的研究对象开发基于网络的调查工具和网站，分析候选黑色素瘤基因的调控序列，皮肤微生物组的生物信息学分析，以及对Illumina微阵列的重新注释。 正在进行的科学项目包括重新设计同源结构域资源网站，分析序列痕迹以检测肿瘤样本中假定的癌基因突变，描述脊椎动物、无脊椎动物和植物基因组中的大外显子；不断更新和改进乳腺癌信息核心(BIC)网站，将数十万个斑马鱼耳朵特异的MPSS标签映射到各种斑马鱼序列数据库；开发一种使用Illumina序列标签绘制斑马鱼逆转录病毒整合位点的方法；对定制的寡核苷酸芯片进行重新注释，对Multiplex Initiative调查报告和网络行为数据进行分析，开发定制的SQL数据库，用于存储和计算大量犬类基因型、表型、序列、变异、样本数据和系谱数据；实施了一项多中心调查，以研究葡萄糖脑苷酶突变与帕金森病之间的关联；对葡萄糖脑苷酶基因进行了进化分析；以及分析了一个斑马鱼捕捞项目中检测到的突变的序列痕迹。

The NHGRI Bioinformatics and Scientific Programming Core actively supports the research being performed by NHGRI investigators by providing expertise and assistance in bioinformatics and computational analysis. The Core facilitates access to specialized software and hardware, develops generalized software solutions that can address a variety of questions in genomic research, develops database solutions for the efficient archiving and retrieval of experimental and clinical data, disseminates new software and database solutions to the genome community at-large, collaborates with NHGRI researchers on computationally-intensive projects, and provides educational opportunities in bioinformatics to NHGRI Investigators and trainees. Scientific projects completed in 2007-2008 include the development of various Perl scripts for data re-formatting, the re-annotation of CGH custom oligonucleotide arrays, the development of a Web-based survey to measure physicians opinions regarding how genetic variation affects choice of treatment of patients, the determination of the genomic context of retroviral integration sites, the identification of genome-wide consensus binding sequences for the MITF and SOX10 transcription factors, an evolutionary analysis of the Sox10 gene, the identification of regulatory sequences in genes involved in Hermansky-Pudlak syndrome, the development of Web-based questionnaires for a multi-center lung cancer study and hereditary breast cancer study, the development of Web-based survey tools and a Web site for study subjects participating in the Multiplex Initiative, the analysis of regulatory sequences in a candidate melanoma gene, bioinformatic analyses of the skin microbiome, and the re-annotation of Illumina microarrays. Ongoing scientific projects include the redesign of the Homeodomain Resource Web site, analysis of sequence traces to detect mutations in putative oncogenes in tumor samples, the characterization of large exons in vertebrate, invertebrate, and plant genomes; ongoing updates and improvements to the Breast Cancer Information Core (BIC) Web site, the mapping of hundreds of thousands of zebrafish ear-specific MPSS tags to various zebrafish sequence databases; the development of a method to map zebrafish retroviral integration sites using Illumina sequence tags; the re-annotation of custom oligonucleotide chips, the analysis of Multiplex Initiative survey reports and Web behavior data, the development of a customized SQL database for storing and computing on large numbers of records for canine genotypes, phenotypes, sequences, variations, sample data, and pedigree data; the implementation of a multi-center survey to study association between glucocerebrosidase mutations and Parkinsonism, an evolutionary analysis of the glucocerebrosidase gene, and the analysis of sequence traces to detection mutations for a zebrafish TILLING project.