Developed in collaboration with the Laboratory Medicine, Information Technology, and Health Science Research departments of Mayo Clinic, Geneticist Assistant NGS Interpretative Workbench is a unique tool for the management,
control, visualization, functional interpretation, and knowledge database of next-generation sequencing whole exome data for the purpose of identifying pathogenic variants. Geneticist Assistant may also be used to target
specific gene panels.
Geneticist Assistant is compatible with data processed from all leading next generation sequencing platforms such as those from Ion Torrent, Illumina and Roche. The program accepts standardized BAM and VCF files, includes prediction
information from SIFT, PolyPhen2, LRT and Mutation Taster as well as conservation scores data from PhyloP, GERP++ and SiPh. Additionally, information from proprietary custom databases and from the COSMIC database of somatic
mutations are easily imported into the workbench.
Geneticist Assistant software includes valuable tools for variant filtering, sample comparisons - including trio and family comparisons - custom PDF report design, and review of customizable quality metrics.