GENOMES

Please note before download:

  • The download packages only should 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, that already analysed data can not longer be 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 our ftp server (recommended)

All data available on this website can alternatively be downloaded from our ftp-server. This is recommend especially for the download of big files, because the download can be restarted in case there is an interruption.

Download from this website

For module SEQNEXT (or SEQPATIENT and SEQNEXT in one installation):

NAME
GENOME
REFERENCE
SIZE
DOWNLOAD
NAME
hg19NCBI-SEQNEXT
GENOME
hg19
REFERENCE
NCBI transcripts
SIZE
3.43 GB
NAME
hg19ENSG-SEQNEXT
GENOME
hg19
REFERENCE
ENSG transcripts
SIZE
3.43 GB
NAME
hg38NCBI-SEQNEXT
GENOME
hg38
REFERENCE
NCBI transcripts
SIZE
3.43 GB
NAME
hg38ENSG-SEQNEXT
GENOME
hg38
REFERENCE
ENSG transcripts
SIZE
3.44 GB

For module SEQPATIENT only:

NAME
GENOME
REFERENCE
SIZE
DOWNLOAD
NAME
hg19NCBI-SEQPATIENT
GENOME
hg19
REFERENCE
NCBI transcripts
SIZE
719 MB
NAME
hg19ENSG-SEQPATIENT
GENOME
hg19
REFERENCE
ENSG transcripts
SIZE
727 MB
NAME
hg38NCBI-SEQPATIENT
GENOME
hg38
REFERENCE
NCBI transcripts
SIZE
725 MB
NAME
hg38ENSG-SEQPATIENT
GENOME
hg38
REFERENCE
ENSG transcripts
SIZE
733 MB

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:

NAME
GENOME
SIZE
DOWNLOAD
NAME
hg19-GenomeCompact
GENOME
hg19
SIZE
3.41 GB
NAME
hg38-GenomeCompact
GENOME
hg38
SIZE
3.43 GB

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 update the known genes for already existing genomes (hg19 and hg38):

NAME
GENOME
REFERENCE
SIZE
DOWNLOAD
NAME
knownGenes_hg19_NM.zip
GENOME
hg19
REFERENCE
NCBI transcripts
SIZE
3.6 MB
NAME
knownGenes_hg19_ENST.zip
GENOME
hg19
REFERENCE
ENSG transcripts
SIZE
8.4 MB
NAME
knownGenes_hg38_NM.zip
GENOME
hg38
REFERENCE
NCBI transcripts
SIZE
3.8 MB
NAME
knownGenes_hg38_ENST.zip
GENOME
hg38
REFERENCE
ENSG transcripts
SIZE
6.9 MB