Registering a database

After a database VCF file is created by Illumina Support or provided by the customer, it is stored in a dedicated customer bucket. To activate the database, users with appropriate permissions need to register the database.

1

In the Organization DB Management card, click Add in the upper right corner.

2

Enter the database details:

• DB name: Enter database name

To prevent processing issues and maintain consistent naming across the platform, do not use underscores ("_") in a database name.

• DB type: Select database type (Noise, Historic)

• Variant type: Select variant type (SNV, CNV)

• Human reference: Select genome reference (GRCh37, GRCh38)

• Active: Toggle to apply annotations from the database to variants in new and reanalyzed cases.

• AI Shortlist: Toggle to make AI Shortlist factor in allele frequencies from the database. When enabled, variants with an allele frequency above 10% are excluded from the list

• Fields: Auto-populated

3

Click Next.

4

Select the database file from your bucket using the file browser.

5

Click Save.

Registering an organization database automatically logs the details in the organization's audit record, ensuring transparency and traceability.