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Genomes, GenomeCompact, Genome Description Files

Please note before download:

  • The genome download packages for hg19, hg38 and T2T should only be used for new SEQUENCE Pilot installations. Never install a genome in an already existing one.
    Please note: the genome installation executables (hg19.exe, hg38.exe, or T2T.exe) do not include genome description files. The corresponding genome description files are listed below or can be downloaded from version 4.5.2 directly in the “Genome Admin...” of SEQUENCE Pilot from the preferred manufacturer (NCBI or ENSEML).
  • If you use our SEQUENCE Pilot module SEQNEXT, please also install the corresponding GenomeCompact to use the Genome Mapping function. Genome mapping can be performed to filter background/homologies and is recommended for large panels.
  • Genome description files (Known Gene Lists). As of version 4.5.2, current genome description files from NCBI and ENSEMBL can be downloaded directly in the “Genome Admin...”.
    Important: Do Not Manually Replace Genome Description Files Without Assistance!
    Replacing the existing genome description files (Known Gene Lists) in a SEQUENCE Pilot installation will lead to incorrect display and  loss of already analyzed data. To avoid this issue, always contact our support team before installing any new files.

  • 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.

Genomes

For module SEQNEXT and SEQPATIENT:

NAME
GENOME
REFERENCE
SIZE
MD5-HASH
DOWNLOAD
NAME
hg19.exe
GENOME
hg19
REFERENCE
No Genome Description File
SIZE
3.44 GB
MD5-HASH
f6fe656290aab3983c12396ab50aa7a1
DOWNLOAD
NAME
hg38.exe
GENOME
hg38
REFERENCE
No Genome Description File
SIZE
3.43 GB
MD5-HASH
8fda783f4161691d98ddbc2f7ba3e0de
DOWNLOAD
NAME
T2T.exe
GENOME
T2T-CHM13v2.0
REFERENCE
No Genome Description File
SIZE
3.46 GB
MD5-HASH
95b83c72826172779d594b55c7ccf105
DOWNLOAD
NAME
MT.exe
GENOME
NC_012920.1 (AC_000021)
REFERENCE
mitochondrion Homo sapiens
SIZE
184 KB
MD5-HASH
68925a95578db4cc4b9fcf2696586b1d
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(s).

GenomeCompact for Genome Mapping

For module SEQNEXT and software version 4.4.0 or higher only:

NAME
GENOME
SIZE
MD5-HASH
DOWNLOAD
NAME
hg19-GenomeCompact.exe
GENOME
hg19
SIZE
3.41 GB
MD5-HASH
14e8b65dcba9a42cbb589177d1980c3e
DOWNLOAD
NAME
hg38-GenomeCompact.exe
GENOME
hg38
SIZE
3.43 GB
MD5-HASH
dd7319cab59e1bb3ac087fa06e571b5d
DOWNLOAD
NAME
T2T-GenomeCompact.exe
GENOME
T2T-CHM13v2.0
SIZE
3.51 GB
MD5-HASH
77b8699246b837fc3228e018968c4e59
DOWNLOAD

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, SeqPilot\GeneFiles\Genome\hg38 and / or SeqPilot\GeneFiles\Genome\T2T

Genome Descriptiopn Files (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
DOWNLOAD
NAME
knownGenes_hg19_ENST.zip
GENOME
hg19
REFERENCE
ENSG transcripts
SIZE
5.6 MB
DATE
2022-10-07
DOWNLOAD
NAME
knownGenes_hg38_NM.zip
GENOME
hg38
REFERENCE
NCBI transcripts
SIZE
3.6 MB
DATE
2024-01-05
DOWNLOAD
NAME
knownGenes_hg38_ENST.zip
GENOME
hg38
REFERENCE
ENSG transcripts
SIZE
7.6 MB
DATE
2024-01-05
DOWNLOAD