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Genomenal is in Russian Software Registry

Tue, 04/12/2022 - 09:00

The flagship product of our company Genomenal was registered in the unified register of Russian software. The register No.13178 dated 04/11/2022 was made on the order of the Ministry of Digital Development, Communications and Mass Media of the Russian Federation dated 04/11/2022 according to the expert council dated 04/04/2022 No. 410pr. 

Genomenal is a software for automated processing and annotation of NGS data. A professional application for bioinformatics that can be used by non-specialists.

Genomenal allows you to find mutations and genomic polymorphisms and annotate them using connected databases for scientific research. The software includes several modules:

  • Onco-module.
    Interprets found mutations in the tumor and/or blood, helps doctors clarify the diagnosis and prescribe targeted therapy for cancer patients, as well as optimize the course of treatment.
  • Module of hereditary diseases.
    Allows you to find mutations and provide statistical estimates of the development of diseases.
  • Preimplantation diagnostics module.
    Allows detection of aneuploidies and other chromosomal rearrangements in low-coverage whole genome DNA sequencing samples.

An exclusive license for the P3MED software has been received

Thu, 03/17/2022 - 09:00

Our company “AcademGin” LLC has signed a License Agreement to obtain from the Dutch software developer PolyKnomics BV an exclusive license for the use and distribution throughout the Russian Federation of the computer program "Module for calculating polygenic risks of diseases and predicting the expected quantitative trait values ​​from individual genomic data” (or P3MED).

he program performs input, quality control and imputation of individual genetic data (IGD), calculation of polygenic risks and predictions of the expected value of quantitative traits based on individual data. Both HDIs obtained using DNA microarrays and next-generation sequencing data are accepted as input. IGD imputation is performed using an external program and uses data from a reference population. The calculation of polygenic risks includes synchronizing the HDD with the data of the prediction model and directly calculating polygenic risks with the selected parameters. If data on phenotypes are available, the quality of the prediction is analyzed using various quality metrics and graphical display methods.

Using P3MED, both as a separate software system and in combination with our own product NGS Wizard, we can make a reliable and highly accurate calculation of human polygenic risks with selected parameters based on individual genetic data or next generation sequencing data. Such calculations can be made to order for current and potential customers.

About PolyKnomics BV: A company specializing in the development of products and services in the field of statistical and computational genomics. The company develops new solutions or adapts existing ones to the needs of the customer. In addition to P3MED, PolyKnomics BV's in-house development portfolio includes the GWAS-MAP platform, which combines the results of whole genome association and functional genomic analysis of millions of samples, and the Fit2Breed platform for dog genomic selection.

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