Updates in new version of Genomenal 1.8.0:
- Analysis pipeline is substantially reworked and improved. It is now faster and more precise.
Improvements were achieved by using updated version of GATK, bwa-mem2, and revisiting mechanisms of raw read filtration and other steps of the pipeline. Precision was controlled using benchmarks shared by Genome In a Bottle and SEQC-2.
- Persistent custom pathogenicity classes.
Variants marked as pathogenic while working on an arbitrary sample, will be marked as pathogenic in other samples automatically. Moreover it is possible to upload pathogenic variants in bulk to use later in annotation pipeline.
- Improvements of basic filtering mode in Variant Viewer.
Panel of basic filter is now customizable. It allows to use several new filtering creteria. Multiselection is now enabled in the fields where it is possible.
- Customizable UI features.
User can adjust several interface features. For example, hide variant details panel in Variant Viewer, customize navigation panel etc.