NHGRI/DIR Bioinformatics and Scientific Programming Core

NHGRI/DIR 生物信息学和科学编程核心

• 批准号: 7734913
• 负责人: Andreas Baxevanis
• 金额: $ 315.94万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/7734913
• 关键词: Address; Affect; Archives; Behavior; Behavioral; Binding; Bioinformatics; Canis familiaris; Clinical; Clinical Data; Communities; Computer Analysis; Computer software; Consensus; Custom; Data; Databases; Development; Diagnosis; Ear; Exons; Genes; Genetic Variation; Genome; Genomics; Genotype; Goals; Hereditary Breast Carcinoma; Hereditary Disease; Hermanski-Pudlak Syndrome; Internet; Invertebrates; Malignant neoplasm of lung; Maps; Measures; Methods; Mutation; Mutation Detection; Numbers; Oligonucleotide Microarrays; Oligonucleotides; Oncogenes; Online Systems; Parkinsonian Disorders; Patients; Phenotype; Physicians; Plant Genome; Questionnaires; Records; Reporting; Research; Research Personnel; Resources; Retrieval; Sampling; Sequence Analysis; Site; Skin; Solutions; Study Subject; Support of Research; Surveys; Update; Variant; Zebrafish; computerized tools; genetic pedigree; glucosylceramidase; homeodomain; innovation; malignant breast neoplasm; melanoma; microbiome; programs; tool; transcription factor; tumor

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.

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来积极支持NHGRI研究人员进行的研究。 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调查人员和学员。 2007年至2008年完成的科学项目包括开发各种PERL脚本，以进行数据重建，重新构建CGH自定义寡核苷酸阵列的重新注册，开发基于Web的调查，以衡量医生对遗传变异的看法，以影响遗传变异如何影响患者的治疗选择，对患者的选择，确定基因组的基因组合依据，基因组的基因组合的基因组合。 Sox10转录因子，对Sox10基因的进化分析，与Hermansky-Pudlak综合征相关的基因调节序列的鉴定，基于Web的肺癌研究和遗传性乳腺癌研究的基于Web的调查表的开发，基于Web的调查工具的开发和网站的序列序列序列序列序列，参与综合性，参与综合性的序列，参与基于Web的研究。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对同源域资源网站的重新设计，分析用于检测肿瘤样品中假定癌基因突变的序列痕迹，脊椎动物，无脊椎动物和植物基因组中大外显子的表征；乳腺癌信息核心（BIC）网站的持续更新和改进，将成千上万的斑马鱼耳朵特异性MPS标签映射到各种斑马鱼序列数据库中；使用Illumina序列标签绘制斑马鱼逆转录病毒整合位点的方法的开发；自定义寡核苷酸芯片的重新注释，多重倡议调查报告和Web行为数据的分析，开发用于存储和计算大量记录的自定义SQL数据库的犬类基因型，表型，序列，序列，序列，变化，样本数据和谱系数据；对葡萄糖核苷酶突变与帕金森氏症之间的研究相关性的多中心调查，对葡萄糖脑苷酶基因的进化分析以及对斑马鱼耕作项目检测突变的序列痕迹的分析。