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.
Genomenal and NGS Wizard are the trademarks of Novel Software Systems - BioIT research, development and product company.
