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HRA000876
   HRA000876.xlsx
Title:
Genome and transcriptome sequencing to solve a neuromuscular puzzle: Miyoshi muscular dystrophy and early onset primary dystonia in siblings of the same family
Release date:
2021-05-27
Description:
Using integrated genome and transcriptome sequencing, we discovered hereditary MMD and EOPD affecting two siblings of same family. Our results added further weight to the combined use of RNA-seq and WGS as an important method for detection of deep intronic gene mutations, and suggest that integrated sequencing assays are an effective strategy for the diagnosis of hereditary NMDs.
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA004973
Study type:
Disease Study
Disease name:
distal muscular dystrophy
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC000495
DAC name:
Miyoshi muscular dystrophy
Contact person:
Li Yahua
Email:
liyahuazzs@163.com
Description:
Using integrated genome and transcriptome sequencing, we discovered hereditary MMD and EOPD affecting two siblings of same family. Our results added further weight to the combined use of RNA-seq and WGS as an important method for detection of deep intronic gene mutations, and suggest that integrated sequencing assays are an effective strategy for the diagnosis of hereditary NMDs.
Individuals & samples
Files
Request Data
Submitter:   Li Yahua / liyahuazzs@163.com
Organization:   The Third Hospital of Hebei Medical University,Shijiazhuang,050051,China
Submission date:   2021-05-26
Requests:   -