GENOMES
Please note before download:
- The download packages should only be used for new SEQUENCE Pilot installations. Never install a genome in an already existing one.
- For hg19 and hg38 please decide first which references (ENSG or NCBI) you want to use and download only one.
- In case of using our SEQUENCE Pilot module SEQNEXT please also install the corresponding GenomeCompact for using our Genome Mapping function. A genome mapping can be done to filter background/homologies. It is recommended for big panels.
- Known Gene Lists of an existing SEQUENCE Pilot installation never should be replaced by new ones. This can result in already analysed data no longer being displayed correctly. Therefore please always contact our support first before installing any files!
- To ensure that all files are downloaded correctly, we provide md5 checksums for the big files. Therefore after download, please verify the integrity of the downloaded file, i.e. whether it is complete and uncorrupted. To do so, you may use the md5 checksum provided (respective link). Search for md5 checksum on the web to find suitable verification tools. Within the verification tool, browse and select the downloaded file and let the tool compute the checksum. If the two checksums differ, you have to download the file again.
Download from this website
For module SEQNEXT (or SEQPATIENT and SEQNEXT in one installation):
NAME
GENOME
REFERENCE
SIZE
DOWNLOAD
For module SEQPATIENT only:
NAME
GENOME
REFERENCE
SIZE
DOWNLOAD
Installation:
- Execute the downloaded file and follow the installation instructions. As destination directory please select the folder GeneFiles of your SEQUENCE Pilot installation (default: C:\SeqPilot\GeneFiles).
- After the installation the new folder Genome is available in your directory SeqPilot\GeneFiles, containing the corresponding genome (hg19 and / or hg38).
GenomeCompact for Genome Mapping
For module SEQNEXT and software version 4.4.0 or higher only:
Installation:
- Execute the downloaded file and follow the installation instructions. As destination directory please select the folder Genome of your SEQUENCE Pilot installation (default: C:\SeqPilot\GeneFiles\Genome).
- After the installation the new folder GenomeCompact is available in your directory SeqPilot\GeneFiles\Genome\hg19 and / or SeqPilot\GeneFiles\Genome\hg38.
Known Gene Lists
For modules SEQNEXT and SEQPATIENT only, to additionally deposit the newest known genes version to an already existing genomes (hg19 and hg38).
Before you install an update, please contact the SEQUENCE Pilot support first!
NAME
GENOME
REFERENCE
SIZE
DATE
DOWNLOAD
NAME
knownGenes_hg19_NM.zip
GENOME
hg19
REFERENCE
NCBI transcripts
SIZE
3.0 MB
DATE
2022-10-07
NAME
knownGenes_hg19_ENST.zip
GENOME
hg19
REFERENCE
ENSG transcripts
SIZE
5.6 MB
DATE
2022-10-07
NAME
knownGenes_hg38_NM.zip
GENOME
hg38
REFERENCE
NCBI transcripts
SIZE
3.0 MB
DATE
2023-04-19
NAME
knownGenes_hg38_ENST.zip
GENOME
hg38
REFERENCE
ENSG transcripts
SIZE
6.6 MB
DATE
2023-04-19