New in emedgene 2.27 (March 7, 2022)
Smooth Accessioning
File validations are here
Files get corrupted, lines deleted, missing columns, that’s a fact of the bioinformatics life. We’ve added automatic file validation, so if there is an error with your file you will get a clear and detailed message right away, no support needed! We want to get your files running as soon as possible.
These are the most common error categories we see:
Extraction of data (reference, columns) has failed
Gzip file is invalid
Mismatch of data between samples or patient
File contains empty or unfinished lines
New API Schema Validation
We view automation as a critical piece of the lab workflow and want to make it as easy as possible for our customers to automate accessioning via API.
That’s why our new and simplified API comes with Swagger. Swagger is a combination of live API documentation and testing sandbox that allows you to try out your API code before deploying, and identify errors and their origin immediately (and clearly!).
New Variant Types Supported
SV (Del/Dup)
We now support SV Del/Dups called with the DRAGEN Manta SV caller. All the interpretation features available for CNVs are applied to SVs, including our time-saving automated ACMG-ClinGen classification.
Compound Heterozygote with CNVs
We’ve updated our compound heterozygote algorithm and it now considers CNV deletions, CNV intra-genic duplications and SNVs. You can access the results through the filtering - whether ad hoc or presets.
We hope these features will help you solve more patient cases!
Workflow Automations
Emedgene Curate keeps getting better
You can now import an existing curated variant interpretation into your case workflow, and populate it to a report with a single click if you are using our reporting system.
Panel Workflow Improvement - Hide Gene List
We’ll be gradually improving the panel interpretation workflow. For this version, we added a ‘Hide Gene List’ capability from both the API and UI.
Most labs work with hundreds of pre-defined gene lists, most often created via the API. Then, when creating a gene list on the fly for a specific test, it can be hard to find and apply it from the UI.
Hide gene list allows you to hide your pre-defined panels, so that the UI can be utilized for applying gene lists on the fly. Users with the relevant roles will have control of whether a gene list is hidden or exposed.
Genome runtimes reduced to support rWGS
For those of you running from FASTQ, a genome trio now runs in under 7 hours. Don’t forget the output is a highly accurate AI Shortlist - with evidence! - that reduces time-to-preliminary-report to a few minutes in cases solvable with SNV/Indels.
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