Version 1.4 of NGS Wizard application has released: compliance with ACMG criteria, support of BGI and MGI, improved glioma patient report

In version 1.4.0 the following improvements have been made:

A new instrument for germline variants interpretation according to criteria of American College of Medical Genetics (ACMG). It allows making decisions about the significance of each variant in the disease’s pathogenesis. 

New extended report about the diagnosis for glioma patients. It contains the interpretation of variants, clinical guidelines, use of drugs, and modern clinical researches.  

Support of the data for new generation BGI and MGI sequencers, including DNBSEQ™, MGISEQ™and BGISEQ™ devices. 

The speed of analysis increased significantly (up to 3 times faster depending on equipment) with the use of parallel calculations.

 

Also, a number of minor improvements implemented:

Uploading of the mapped reads in SAM/BAM formats.

Exporting variants selection and filtration results. 

Improved description of patients' profiles with document attachments.

 

 

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