NHGRI/DIR Bioinformatics and Scientific Programming Core

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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 2009-2010 include the development of a Web site and database to catalog descriptions, definitions, and images of human phenotypic variations in order to provide standardized terms for human morphology; exon-level gene expression analysis with subsequent pathway and ontological analysis to evaluate role of strain-dependent genomic factors in allergen-induced airway hyper-responsiveness in mice, development of a Web-based system for administering cancer risk perception, including the development of online surveys and tools for tracking incentives; analysis of survey reports and Web behavior data generated by the Multiplex Initiative, evolutionary analysis of the Magoh gene, collation of multi-center survey data to study association between glucocerebrosidase mutations and Parkinsonism, comparison of integration profiles of MLV and CATPAC retroviral vectors, and analysis of retroviral integration sites in induced pluripotent stem (iPS) cells. Ongoing scientific projects include the annotation of the Mnemiopsis genome using NextGen sequence data, analysis of sequence traces to detect mutations in putative oncogenes in tumor samples, development of a Web-based prenatal survey and adaptation of traditional paper-based survey techniques for Web-based deployment, development of a Web site and database of hematologically important mutations, characterization of large exons in vertebrate, invertebrate, and plant genomes; ongoing updates and improvements to the Breast Cancer Information Core (BIC), development of a bioinformatic pipeline to map zebrafish retroviral integration sites using Illumina sequence tags, analysis of ChIP-seq data to assess chromatin structural changes in progeria, prediction of gene regulatory regions in select zebrafish genes by transcription factor binding site analysis and phylogenetic footprinting, mapping of 22-mers from the CFTR UTRs to the human genome, allowing for mismatches; prediction of gene regulatory regions in human myeloid leukemia-related genes by transcription factor binding site analysis and phylogenetic footprinting, analysis of ChIP-seq data to compare normal and MMS-induced DNA damaged samples, 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; development of an informational Web site for pigment cell genes, annotation of putative binding sites for transcription factors that function in selected conditions, and analysis of sequence traces to detection mutations for a zebrafish TILLING project.