Public SNP DBs
Please note before download:
- These installation packages can be used for new SEQUENCE Pilot installations as well as to update already existing SEQUENCE Pilot installations.
- The Public SNP DBs can be used for the SEQUENCE Pilot modules SEQNEXT, SEQPATIENT and SEQARRAY and in case a corresponding genome (hg19 / hg38) is installed.
- The installation packages are for SEQUENCE Pilot version 5.3.0 or higher.
- The installation package includes the databases dbSNP, ClinVar, ExAC and gnomAD (for hg38 ExAC is not available).
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File Integrity Verification Using MD5 Checksums
To ensure that files are downloaded correctly and without corruption, MD5 checksums are provided for larger files. The integrity of the downloaded file can be verified by comparing its MD5 checksum with the one provided
Steps to Verify the MD5 Checksum:
- Obtain an MD5 Verification Tool
Search online for an MD5 checksum verification tool compatible with the relevant operating system. - Execute the Verification Tool
Open the tool and select the downloaded file for verification. - Compare the Checksums
Allow the tool to calculate the MD5 checksum of the downloaded file and compare it with the provided checksum. - If the Checksums Do Not Match
If the checksums do not match, the file may be corrupted. It is recommended to download the file again and repeat the verification process.
- Obtain an MD5 Verification Tool
Download links
Installation instructions
Update:
- Delete the old Public SNP DBs of your SEQUENCE Pilot installation first. These are the folders GenomeDBVar and GenomeVar of the directory SeqPilot\GeneFiles.
- Unzip the downloaded file into the directory SeqPilot\GeneFiles of your SEQUENCE Pilot installation.
- After the installation the folders GenomeDBVar and GenomeVar should be shown up again in the directory SeqPilot\GeneFiles.
New installation:
- Unzip the downloaded file into the directory SeqPilot\GeneFiles of your SEQUENCE Pilot installation.
- After the installation the folders GenomeDBVar and GenomeVar should be shown up in the directory SeqPilot\GeneFiles.
Linkouts
With SEQUENCE Pilot version 5.4.2, there is a file named 'Linkouts.ini' placed in the 'bin' folder of your installation. This file determines the websites available in the 'web Ref' context menu within SEQUENCE Pilot. It's important to know that this file can be edited individually by users. Consequently, it won't be updated automatically in future SEQUENCE Pilot updates. This measure is taken to protect any manual edits made by users from being overwritten.
Occasionally, we might introduce new versions of this file to include frequently requested websites.
If you've manually edited your 'Linkouts.ini' file, it's crucial not to replace your own file with this one.
Instead, use a text editor to add new entries for the additional websites in your edited 'Linkouts.ini' file.