Replacing genome variant annotation, filtering and interpretation software

his 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 fr