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帮助，积极支持NHGRI研究人员正在进行的研究。核心促进获得专业的软件和硬件，开发通用的软件解决方案，可以解决基因组研究中的各种问题，开发数据库解决方案，用于有效存档和检索实验和临床数据，向基因组社区传播新的软件和数据库解决方案。并为NHGRI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开发用于数据重新格式化的各种Perl脚本，CGH定制寡核苷酸阵列的重新注释，开发基于网络的调查以衡量医生关于遗传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，鉴定MITF和SOX 10转录因子的全基因组共有结合序列，Sox 10基因的进化分析，鉴定涉及Hermansky-Pudlak综合征的基因中的调节序列，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，为参与多重倡议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中的调节序列，皮肤微生物组的生物信息学分析，以及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致癌基因的突变，脊椎动物、无脊椎动物和植物基因组中大外显子的特征;正在更新和改进乳腺癌信息核心网站，将数十万条斑马鱼耳朵特异性MPSS标签映射到各种斑马鱼序列数据库;开发了一种使用Illumina序列标签绘制斑马鱼逆转录病毒整合位点的方法;重新注释了定制的寡核苷酸芯片，分析了Multiplex Initiative调查报告和Web行为数据，开发了一个定制的SQL数据库，用于存储和计算犬基因型、表型、序列、变异、样本数据和谱系数据的大量记录;实施多中心调查，研究葡萄糖脑苷脂酶突变和帕金森症之间的关联，葡萄糖脑苷脂酶基因的进化分析，以及斑马鱼TILLING项目检测突变的序列痕迹分析。

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.