New in emedgene 31 (March 1st 2023)

1. New features:

   1. Illumina Support Access

   2. Ordering Role

2. Current limitations

3. Known Issues

New features

Illumina Support Access

Feeling in control about your data is reassuring. With improved User Access Policy, at any given time, you can control whether the Illumina Support team has access to your organization.

Access is enabled by default, but can be disabled by the organization's Manager in Settings > Management > Illumina Support Access.

Ordering Role

Do you offer genetic services to other health care providers? Consider delegating case creation to your customers. The new Ordering user role enables authorized third parties to create cases in your account with zero access to your data.

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Current limitations

1. Annotation and automatic ACMG classification are not supported for CNV variants larger than 20Mbp [ACMG CNV Classification wizard].

2. Curate does not support CNVs greater than 10MBp or intergenic variants. [Curate]

3. Evidence page is not available for manually added variants. [Evidence page]

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Known Issues

1. Switching between simple and advanced modes doesn't work for locally loaded BAMs [Visualization section]. Fix planned for 32.0*.*

2. After a gene list has been used as a basis for a preset, deleting it in Settings results in a 404 "Case not compatible" error [Gene lists]. Fix planned for 32.0.

3. Visualization is not supported for cases with VCF + CRAM files stored in Illumina Connected Analytics V1 or BaseSpace Sequence Hub, only for VCF + BAM.

4. Defining fields that are mandatory for case creation does not work from the UI [Settings]. Please contact support if you’d like to configure these fields for your account

5. If you navigate to the Lab tab first after entering a case, quality metrics will fail to display. Current workaround is to first load _Candidates tab_or Analysis tools tab. [Lab tab]. Fix planned for 32.0.