Annotation database versions for use with BlueFuse Multi v4.4+

The annotation database is used by BlueFuse Multi during analysis and visualization of experiments. The annotation database is central to BlueFuse Multi software functionality; it contains information about the human genome to aid in the interpretation of experimental results. The annotation database includes the position of genes, exons, and publicly available data on CNV frequency shown in the DecisionTrack pane within BlueFuse Multi. It uses information from major public databases such as the ENSEMBL for gene annotation, OMIM for inherited diseases, and DGV and dbVAR for genetic healthy or disease variants.

To download annotation database files, navigate to BlueFuse Multi Annotation Database to view the available annotation database files. Refer to the following details to select the appropriate BlueFuse Multi Annotation Database file for analysis.

• VeriSeq PGS, Karyomapping, and HumanCytoSNP-12: use the following annotation database for build 37 with BlueFuse Multi v4.4 or above.

  • BG_Annotation_Ens74_20160909.db

  • Database md5 checksum*: 3de7cd32c956e0d668e78a57f254dbb6

• Only CytoSNP 850K: update to this specified annotation database for build 37 with CytoSNP 850K v1.2.

  • BG_Annotation_Ens74_20180801.db

  • Database md5 checksum*: 28dbedce9028ca4a6baeabaca5fcb747

• Only CytoSNP-12 v2.1, CytoSNP-850K v1.1, and CytoSNP850K v1.2: use the build 38 annotation database with BlueFuse Multi v4.5. This annotation database can only be used with build 38 data generated from Illumina BeadArrays. This annotation database is not compatible with BlueFuse Multi v4.4 and below.

  • BG_Annotation_Ens91_20181015.db

  • Database md5 checksum*: f6109f5aba132f32ee0002d71af4fdb8

• Only CytoSNP 850K: use or update to this specified annotation database for build 37 with CytoSNP 850K v1.3.

  • BG_Annotation_Ens74_20220905.db

  • Database md5 checksum*: b434e2ecba6e4505718784773b393819

• Only CytoSNP 850K v1.2 and v1.3: use the following build 38 annotation database with BlueFuse Multi v4.5. This annotation database can only be used with build 38 data generated from Illumina CytoSNP 850K BeadArrays. This annotation database is not compatible with BlueFuse Multi v4.4 and below.

  • BG_Annotation_Ens91_20220906.db

  • Database md5 checksum*: 639d0cb56f740d07766ab9fdf32ae854

• Only CytoSNP 850K: use or update to this specified annotation database for build 37 with CytoSNP 850K v1.4.

  • BG_Annotation_Ens74_20230922.db

  • Database md5 checksum*: a0ac41a2121325abf3d35a9797ab8b9d

• Only CytoSNP 850K v1.2, v1.3 and v1.4: use the following build 38 annotation database with BlueFuse Multi v4.5. This annotation database can only be used with build 38 data generated from Illumina CytoSNP 850K BeadArrays. This annotation database is not compatible with BlueFuse Multi v4.4 and below.

  • BG_Annotation_Ens91_20230922.db

  • Database md5 checksum*: 0a0a962461ce1dbc4676f9fd96e2c33e

Note: *Optional: To validate the downloaded file, use third-party software such as WinMD5Free to confirm the above checksum.

In summary, GTC files generated using build 38 versions of the manifest files must be imported with an Ens91 annotation database. GTC files generated using build 37 versions of the manifest files must be imported with an Ens74 annotation database. Refer to table 1 for an annotation database quick reference.

Table 1. BlueFuse Multi Annotation Database quick reference

See the BlueFuse Multi Annotation Database Release Notes for more details:

• BlueFuse Multi Annotation Database - Support Illumina

For any feedback or questions regarding this article (Illumina Knowledge Article #2174), contact Illumina Technical Support [e-mail].