NHGRI/DIR Bioinformatics and Scientific Programming Core

NHGRI生物信息学和科学规划核心通过提供生物信息学和计算分析方面的专业知识和协助，积极支持NHGRI研究人员正在进行的研究。核心促进了对专业软件和硬件的访问，开发了可以解决基因组研究中各种问题的通用软件解决方案，开发了用于有效存档和检索实验和临床数据的数据库解决方案，向基因组社区广泛传播新的软件和数据库解决方案，与NHGRI研究人员在计算密集型项目上合作。并为NHGRI的研究者和学员提供生物信息学方面的教育机会。

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.