New in Emedgene 2.19-2.22 (Apr 8, 2021)

1. New CNV Analysis Tools:

   1. New Gene Filters: LoF Genes, Established HI/TS Genes
   2. New Quality Filter: Bin Count
   3. Extended CNV Quality Metrics
2. UI & Workflow Improvements:

   1. Variant page redesign: brand new Summary tab and updated Quality tab
   2. Variant type filter & column
   3. Full control over your gene lists
   4. Restricted access to Finalized Case status

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New CNV Analysis Tools

New Gene Filters: LoF Genes, Established HI/TS Genes

Two new CNV filters will help you focus on the genes that are most likely to be pathogenic:

• LoF Genes will present all genes with a gnomAD pLI≥0.9;
• Established HI/TS Genes filter will only return variants genes with an HI/TS score of 3.

Both are available under Gene Filters and can be added to your preset filters.

New Quality Filter: Bin Count

If you’d like to focus on high-quality CNVs, you can now set a minimum bin count of 1, 5, 10, 25, 50, 100 or 500 in CNV Bin Count filter. The filter appears under Quality Filters in Advanced mode.

Extended CNV Quality Metrics

Quality tab for CNVs got updated! For each sample, you can now see copy number, CNV quality, size, and bin count.

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UI & Workflow Improvements

Variant page redesign: brand new Summary tab and updated Quality tab

The Variant page now features a clear Summary tab that spotlights essential variant information - saving you precious clicks! If after the first glance you feel like diving deeper into the variant details - proceed to other Variant page tabs below.

We redesigned Quality tab: it has a slightly different style,

To change the sample in review for the particular variant, click on the corresponding icon in the family tree.

If you've read this far, here is a bonus insider tip! 🤫

Did you know that you can view the Evidence page for any tagged variant? We redesigned the See evidence button on the Evidence section to make it pop!

Variant type filter & column

Piping hot Variant Type Filters at your command! Ready to filter variants by type (SNV, Indel, DEL, DUP). Additionally, variant type is shown in the variant table.

Full control over your gene lists

Administrators of your account now have total control over gene lists and can create and edit them in Settings.

Restricted access to Finalized Case status

The Finalized Case status locks the case to prevent further changes to interpretation notes, ACMG tags, variant tags, pathogenicity and case-level interpretations.

Starting from this version, access to finalizing a case requires a dedicated role, so the organization's manager can restrict access to a specific set of users.