Genetic Analysis of rare diseases and inherited metabolic disorders by trio whole-exome sequencing
Release date:
2024-06-20
Description:
The research objective is to develop integrated solutions of genetic screening and diagnosis of rare diseases and inherited metabolic disorders, which will improve the accuracy of genetic detection and diagnosis of genetic diseases.
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.
To review the scientific and ethical reasonableness of clinical research projects, ensure the dignity, safety and rights and interests of subjects are protected, promote biomedical research to meet high scientific and ethical standards, and enhance public trust and support for clinical research
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.
HRA003652.xlsx