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New version of Genomenal 2.3.0

Thu, 07/20/2023 - 09:00
Новая версия Genomenal 2.3.0

Key changes:

  • Genomenal can now combine any number of samples into a single table (in VCF format), with unsequenced parts of the samples marked in a special way (with "./." genotype). This capability provides the basis for qualitative population analysis, variant frequency calculations and other population genetics tasks. The results of such analyses can be loaded into Genomenal as user annotations.
  • A feature has been developed to merge images into a single image at the data loading stage.
  • This is particularly relevant when sequencers produce multiple files for a single sample, spread across multiple lanes of the sequencer. It is also possible to combine heterogeneous data into a single sample.
  • Population and panel analysis functionality for large numbers of samples has been introduced.
  • RefSeq annotation has been introduced.
  • Users can now analyze the effects of variants on both Ensembl and RefSeq transcripts. Easily select the annotation system you are familiar with.
  • Grouping of filter fields in the query builder has been added to improve navigation and usability.
  • Introduced the ability to resume interrupted sample downloads, making it easier to work with large amounts of data.
  • If communication is interrupted, the sample download can almost always be resumed from the same location.
  • The Variant Viewer tool now has the ability to display the "HGVSp long" column, allowing you to view the variant annotation in the format recommended by the International Human Genetic Variant Consortium.
  • GRM has been improved with an interface to manage organization, add interpretation steps and notify other users of changes to steps. Working in a team is now even more convenient.