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New version of NGS Wizard 1.9.5

Mon, 10/24/2022 - 09:00

Major updates for NGS Wizard 1.9.5:

  • CADD and SpliceAI scores have been added to Variant Viewer to improve quality and convenience of data interpretation.
    CADD (Combined Annotation Dependent Depletion) is a tool for assessing negative impact of genomic variants in the human genome.
    SpliceAI - a tool for assessing negative impact of genomic variants on RNA splicing sites.
    CADD and SpliceAI columns are enabled in the Variant Viewer settings; by default, the columns are not displayed.
    CADD and SpliceAI can be always viewed in the “Protein function effect” tab in the lower information box.
    To display CADD and SpliceAI scores for previously loaded samples, the germinal SNVs/Indels annotation must be restarted.
  • ClinVar and 1000Genomes (1KG) databases were updated.
  • The Molecular Genetic Testing Report Designer has been improved.
    • The following new blocks have been implemented to add to the report template:
      • Formatted text: you can add arbitrary text to the report. MarkDown is supported.
      • SNVs/Indels by ClinVar phenotypes: you can configure which phenotypes from the ClinVar database should be displayed in the report (specifying MEDGEN ID or the name of the phenotype in the ClinVar database); you can also specify recommendations for patients for the specified phenotypes.
    • In the text blocks of the “Formatted Text” and “Disclaimer” report designer, you can add values from patient and specimen cards. For example:
      • {patient.code} — patient ID;
      • {patient.lastName} — patient surname;
      • {sample.sampleType} — sample type;
      • {sample.comments} — comments for a sample;
      • etc.
Novel software systems
Genomenal is a platform that includes high-tech new generation software for processing genomic data (NGS Wizard), computer vision tools for the analysis of MRI, CT, images from electron microscopes and radiography (Bormental), application for predicting functional domains in amino acids sequences (Protomenal), a neural network-based method for modeling the effect of substances and therapies on heterogeneous tumors (iCanTreat). Genomenal platform is a flagship development of Novel Software Systems.
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