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.

National Institute of Health (NIH)
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Center Core Grants (P30)
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Special Emphasis Panel (ZAR1-XZ (M1))
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University of California Los Angeles
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DiFranco, Marino; Kramerova, Irina; Vergara, Julio L et al. (2016) Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. Skelet Muscle 6:11
Reyhan, Meral L; Wang, Zhe; Kim, Hyun J et al. (2016) Effect of free-breathing on left ventricular rotational mechanics in healthy subjects and patients with duchenne muscular dystrophy. Magn Reson Med :
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Srinivasan, Subashini; Kroeker, Randall M; Gabriel, Simon et al. (2016) Free-breathing variable flip angle balanced SSFP cardiac cine imaging with reduced SAR at 3T. Magn Reson Med 76:1210-6
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Young, Courtney S; Hicks, Michael R; Ermolova, Natalia V et al. (2016) A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell 18:533-40
Kramerova, Irina; Ermolova, Natalia; Eskin, Ascia et al. (2016) Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). Hum Mol Genet 25:2194-2207
Gibbs, Elizabeth M; Marshall, Jamie L; Ma, Eva et al. (2016) High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD. Hum Mol Genet :
Mokhonova, Ekaterina I; Avliyakulov, Nuraly K; Kramerova, Irina et al. (2015) The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2. Hum Mol Genet 24:2873-83
Arboleda, Valerie A; Lee, Hane; Dorrani, Naghmeh et al. (2015) De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet 96:498-506

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