Replacing genome variant annotation - filtering and interpretation software

Data from the sequencer is processed through a bioinformatics pipeline (currently GATK - soon transitioning to DRAGEN) - which outputs all possible variants relative to the reference genome in tabular form in a VCF file. This VCF file is imported into the software - where annotation first takes place: all valid variants are separated from invalid variants based on quality parameters. Because this results in a large number of variants - they are subsequently filtered based on laboratory defined criteria - such as genomic position - population frequency - known pathogenicity based on literature or insilico prediction tools. All remaining variants must then be interpreted using various tools/databases. The software supports the use and visualisation of data from these tools - enabling fast and efficient interpretation — including...