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Status |
Public on Sep 29, 2016 |
Title |
Transcriptional profiling of Myotonic dystrophy muscle and heart |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
Autopsy and biopsy muscle and heart tissue was collected from consented human subjects with and without confirmed myotonic dystrophy type 1, myotonic dystrophy type 2, or Duchenne muscular dystrophy. RNA was isolated for preparation of RNAseq libraries and sequenced on the Illumina platform.
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Overall design |
126 samples, comprising 103 distinct individuals, were sequenced. In some cases, several tissues from the same individual were obtained (the anonymized patient identifier can be used to link these). Samples were obtained from 4 different centers around the world (anonymized center identifiers can be used to track these).
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Contributor(s) |
Wang ET, Treacy D, Wang TT, Estabrook J, Day J, Brook D, Thornton C, Cooper T, Housman DH, Burge CB |
Citation(s) |
30561649 |
NIH grant(s) |
Grant ID |
Grant title |
Affiliation |
Name |
RC2 HG005624 |
Deep Sequencing Analysis of mRNA Isoform Expression Changes in Myotonic Dystrophy |
MASSACHUSETTS INSTITUTE OF TECHNOLOGY |
Burge |
DP5 OD017865 |
Ppst-transcriptional regulation of gene expression in neuromuscular disease: Post-transcriptional regulation of gene expression in neuromuscular disease |
UNIVERSITY OF FLORIDA |
Wang |
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Submission date |
Sep 01, 2016 |
Last update date |
Nov 30, 2020 |
Contact name |
Eric T Wang |
Organization name |
University of Florida
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Street address |
2033 Mowry Rd
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City |
Gainesville |
State/province |
FL |
ZIP/Postal code |
32610 |
Country |
USA |
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Platforms (1) |
GPL11154 |
Illumina HiSeq 2000 (Homo sapiens) |
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Samples (126)
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Relations |
BioProject |
PRJNA342787 |
SRA |
SRP089788 |