Annotation database versions for use with BlueFuse Multi v4.4 and higher versions

The Annotation Database, or Annotation db, is a type of file that is installed into a BlueFuse Database by the BlueFuse Multi (BFM) software user. When installed, the Annotation db defines the types of products which can be analyzed and stored in the database. The Annotation db is also central to BlueFuse Multi software functionality; it contains information about the human genome to aid in the interpretation of experimental results. The Annotation db includes the positions of genes (including exons and introns), as well as publicly available data on CNV (Copy Number Variation) frequency shown in the DecisionTrack pane. It draws information from major public databases such as the ENSEMBL for gene annotation, OMIM for inherited diseases, and DGV and dbVAR for genetic variants.

To download Annotation db files, navigate to BlueFuse Multi Annotation Database to view and select the available files.

Refer to the following details to select the appropriate BlueFuse Multi Annotation Database file for analysis.

For CytoSNP-12 and CytoSNP-850K arrays, consult Table 1 to see which Annotation db files are compatible with the different versions of these arrays. If an array version is not listed in the column "Products listed as compatible" for a given Annotation db file, then the array is not compatible with that Annotation db file.
Annotation db files with "Ens74" incorporated into the filename contain genome annotations based on Genome Build 37 (hg19) coordinates. "Ens91" indicates Genome Build 38-based coordinates.
- While a database may have multiple Annotation db files installed, they all must be based on the same genome build. That is, BlueFuse Multi will not allow installation of an "Ens91" Annotation db file into a database which has already had an "Ens74" file installed into it; BlueFuse will install other "Ens74" Annotation db files into the same database.
A .gtc file must have been created using a manifest file based on the same genome build as the Annotations installed in a database in order for that file to be uploaded and analyzed in that database. .gtc files generated using build 38 versions of the manifest files must be imported into a database into which an Ens91 Annotation db file has been installed. .gtc files generated using build 37 versions of the manifest files must be imported into databases with an Ens74 annotation database installed. Bluefuse will not upload and analyze a build 37-based .gtc file in an Ens91 database.

Table 1. BlueFuse Multi Annotation Database quick reference.

File Name

Genome Build

Products listed as compatible

Notes

BlueFuse Multi Annotation Database BG_Annotation_Ens74_20160909.db

Build 37 (hg19)

Karyomap Illumina CytoSNP-12 v2.0 and v2.1 Illumina CytoSNP-850K v1.0 and 1.1

BlueFuse Multi Annotation Database (Build 37 for CytoSNP-850K v1.2) BG_Annotation_Ens74_20180801.db

Build 37 (hg19)

Illumina CytoSNP-12 v2.0 and v2.1 Illumina CytoSNP-850K v1.0, 1.1, and 1.2

BlueFuse Multi Annotation Database (Build 38 for CytoSNP-850K v1.2) BG_Annotation_Ens91_20181015

Build 38

CytoSNP-12 v2.1 CytoSNP-850K v1.1 and 1.2