New in emedgene 2.28 (May 1 2022)

1. New Variant Types Supported

   1. STR

   2. SV Deletion and Duplications

2. Gene Curations

3. Private Networking

4. Additional new features

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New Variant Types Supported

STR

You can now interpret STRs on Emedgene, including proprietary annotation and visualization.

STRs are available for customers starting from FASTQ. Calling is performed using ExpansionHunter, for which recent specificity/sensitivity data can be found in this Lancet Neurology publication. Annotation sources include gnomAD and a unique 1K genomes dataset.

This release also includes an easy way to visualize population data as well as the pathogenicity associated with the number of repeats for the variant you are viewing.

SV Deletion and Duplications

Support for SV deletions and duplications for customers starting from FASTQ is now available in all regions. Calling will be performed with the DRAGEN SV caller, and all the interpretation features available for CNVs are applied to SVs, including our time-saving automated ACMG-ClinGen classification.

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Gene Curations

Emedgene Curate now supports genes, enabling you to save and view gene interpretations and preferred transcripts.

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Private Networking

You can now create private networks and share curated data between organizations in Emedgene Curate. This is in addition to the private networking feature available in Emedgene Analyze and enables sharing and transfer of curated data between trusted organizations.

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Additional new features

• Increased automated ACMG classification accuracy

• In the analysis tools table, you can hover on disease to see all related diseases

• View allele frequency full decimal number

• Support for ICA2 storage