This project aims to identify novel gene mutations in sporadic hypertrophic cardiomyopathy (HCM), particularly in patients with unexplained cases. We performed whole exome sequencing (WES) on HCM patients from Fuwai Hospital and Xi'an Jiaotong University First Affiliated Hospital to explore potential pathogenic variants. Patients selected for the study have left ventricular outflow tract obstruction and no family history of HCM. The project seeks to provide insights into early diagnosis, personalized treatment, and better clinical management of HCM through genetic analysis.
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.
The Data Access Committee (DAC) is responsible for reviewing and authorizing requests for controlled access to data in accordance with the terms of consent and national research ethics regulations. The DAC members are primarily from the institutions involved in sample collection and data generation. This DAC will focus on managing access to the genomic and clinical data related to the sporadic hypertrophic cardiomyopathy (HCM) study.
Organization: Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College
Submission date: 2024-12-02
Requests: -
Aspera Command Line
You need to install the Aspera Connect plugin before uploading your files. If you dont have Aspera Connect plugin installed in your computer, please Download Aspera Connectand install it first.
[path/to/ascp]: Microsoft Windows: C:\Program Files\Aspera\Aspera Connect\bin\ascp.exe or
c:\users\[username]\AppData\Local\Programs\Aspera\Aspera Connect\bin\ascp.exe
Mac OS X: /Applications/Aspera/Connect.app/Contents/Resources/ascp (for admin's installation) or
/Users/[username]/Applications/Aspera/Connect.app/Contents/Resources/ascp (for non-admin's installation)
Linux: /opt/aspera/bin/ascp or
/home/[username]/aspera/connect/bin/ascp
[path/to/key/file] must be an absolute path, e.g.: /home/keys/aspera.openssh
[path/to/folder/containing/files] needs to specify the local folder that contains all the files to upload.