The Bioinformatics/Genomics Core is designed to enable muscle researchers to access state ofthe art genomic tools and use sophisticated data processing tools within the Core. The Bioinformatics/Genomics Core is one component within our community of researchers at the Center for Duchenne Muscular Dystrophy at UCLA that is directed towards promoting translational research in the area of musculoskeletal diseases, with a special focus on muscular dystrophy. The Core is available to investigators to provide advice and guidance on the use of microarray, massively parallel sequencing, and software tools for genomic assessment. A primary role for the core is providing upfront expert advice on the most appropriate and cost effective technology for use in a given biological setting. This is often of immense use across the broad set of investigators involved in the Center. Access to a broad array of technologies include 1) lllumina, Agilent, and Affymetrix array based systems for genotyping, gene expression and copy number assessments 2) lllumina 2500 HiSEQ and lllumina MiSEQ for the generation of whole genome data, whole exome data, targeted enrichment for variant discovery, RNA SEQ for sensitive gene expression and alternative splicing analysis, and CHIP and Methyl SEQ to assess epigenetic changes. The core has staffing to perform assay development and more routine genomic assays and to provide access to informatics tools and expert informatics processing of data for users. All of these services function through a University recharge system to ensure that costs are covered and that the service is available as demand grows across the growing muscular dystrophy community of researchers. This core facility has proven to be a valuable resource to Center Investigators with broad usage leading to new grant funding and high impact publications, and is integral to the overall functioning ofthe Center.

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Center Core Grants (P30)
Project #
2P30AR057230-06
Application #
8708701
Study Section
Special Emphasis Panel (ZAR1-XZ (M1))
Project Start
Project End
Budget Start
2014-04-01
Budget End
2015-03-31
Support Year
6
Fiscal Year
2014
Total Cost
$92,400
Indirect Cost
$32,400
Name
University of California Los Angeles
Department
Type
DUNS #
092530369
City
Los Angeles
State
CA
Country
United States
Zip Code
90095
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Armstrong, Tess; Dregely, Isabel; Stemmer, Alto et al. (2018) Free-breathing liver fat quantification using a multiecho 3D stack-of-radial technique. Magn Reson Med 79:370-382
Wang, Richard T; Barthelemy, Florian; Martin, Ann S et al. (2018) DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype. Hum Mutat 39:1193-1202
Wang, Derek W; Mokhonova, Ekaterina I; Kendall, Genevieve C et al. (2018) Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse. Mol Ther Nucleic Acids 11:180-191
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Aliotta, Eric; Moulin, Kévin; Magrath, Patrick et al. (2018) Quantifying precision in cardiac diffusion tensor imaging with second-order motion-compensated convex optimized diffusion encoding. Magn Reson Med 80:1074-1087
Rai, Muhammad Farooq; Duan, Xin; Quirk, James D et al. (2017) Post-Traumatic Osteoarthritis in Mice Following Mechanical Injury to the Synovial Joint. Sci Rep 7:45223
Quattrocelli, Mattia; Capote, Joanna; Ohiri, Joyce C et al. (2017) Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury. PLoS Genet 13:e1007070
Hazim, Roni A; Karumbayaram, Saravanan; Jiang, Mei et al. (2017) Differentiation of RPE cells from integration-free iPS cells and their cell biological characterization. Stem Cell Res Ther 8:217
Reyhan, Meral L; Wang, Zhe; Kim, Hyun J et al. (2017) Effect of free-breathing on left ventricular rotational mechanics in healthy subjects and patients with duchenne muscular dystrophy. Magn Reson Med 77:864-869

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