DMSeq Edit

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Basic information
Short name DMSeq
Full name Deep Sequencing Data Repository
Description a web resource at http://DMseq.org that hosts raw and processed transcriptome data and provides a lightweight, responsive interface that enables browsing of processed data across the genome
URL http://DMseq.org
Year founded
Last update & version
Availability Free to academic users only
Contact information
University/Institution hosted University of Florida
Address
City
Province/State
Country/Region United States
Contact name Eric T Wang
Contact email eric.t.wang@ufl.edu
Data information
Data object
  • Animal
Data type
  • DNA
  • RNA
Database category
  • Raw bio-data
  • Gene genome and annotation
  • Expression
  • Health and medicine
Major organism
  • Homo sapiens
  • Mus musculus
Keyword
  • dystrophia myotonica
Publications
  • Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. [PMID: 30561649]
    Eric T Wang, Daniel Treacy, Katy Eichinger, Adam Struck, Joseph Estabrook, Hailey Olafson, Thomas T Wang, Kirti Bhatt, Tony Westbrook, Sam Sedehizadeh, Amanda Ward, John Day, David Brook, J Andrew Berglund, Thomas Cooper, David Housman, Charles Thornton, Christopher Burge

    Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by symptoms in muscle, heart, and central nervous system, among others, it is one of the most variable diseases known. A major pathogenic event in DM is the sequestration of Muscleblind-like proteins by CUG or CCUG repeat-containing RNAs transcribed from expanded repeats, and differences in the extent of MBNL sequestration dependent on repeat length and expression level may account for some portion of the variability. However, many other cellular pathways are reported to be perturbed in DM, and the severity of specific disease symptoms varies among individuals. To help understand this variability and facilitate research into DM, we generated 120 RNASeq transcriptomes from skeletal and heart muscle derived from healthy and DM1 biopsies and autopsies. A limited number of DM2 and Duchenne Muscular Dystrophy samples were also sequenced. We analyzed splicing and gene expression, identified tissue-specific changes in RNA processing, and uncovered transcriptome changes strongly correlating with muscle strength. We created a web resource at http://DMseq.org that hosts raw and processed transcriptome data and provides a lightweight, responsive interface that enables browsing of processed data across the genome.

    Hum. Mol. Genet. 2018:()

    0 Citations (from Europe PMC, 2019-01-19)

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  • Created on: 2019-01-04
    • ***d@***c.cn [2019-01-12]
    • ***d@***c.cn [2019-01-12]
    • ***d@***c.cn [2019-01-04]

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