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New version of Genomenal 2.8.0

Wed, 12/25/2024 - 09:00

Key changes:

  • The ability to add demonstration samples for new users has been implemented.

  • Options to speed up sample analysis have been added:

    • Disabling the annotation of copy number variations (CNVs) and their loading into the CNV Viewer;

    • Disabling the annotation of SNVs/Indels and their loading into the SNV Viewer;

    • Disabling base quality score recalibration;

    • Disabling the calculation of gene and transcript coverage.

  • Exclusive filters for SNVs/Indels by region and gene panels have been added.

Useful new features:

  • A link to the GeneBe database for genetic variants has been added.

  • The ability to select a patient phenotype from the HPO database and use it in filtering queries within the SNV Viewer has been added.

  • The read site coverage limit for searching genetic variants now also works for the somatic pipeline.

  • A button to reset all filters in the query builder window of the SNV Viewer has been added.

  • The ability to explicitly merge and unmerge samples when uploading them into a run has been added.

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.
Russia, Novosibirsk
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