Geneticist Assistant provides a complete database solution for storing and tracking NGS data. Information on variants, patients, samples, and target coverage are all stored in the database for recall at any time, eliminating time consuming duplication of variant research, thus speeding diagnosis while reducing costs. As the database is used the number of variants requiring interpretation is quickly reduced to a few novel variants.
Pathogenicity can be set for a variant and is stored in the database. This pathogenicity is then shown for any future samples containing the variant. Geneticist Assistant can also track how frequently a variant has been seen and provide a list of all samples with the variant.
Sample Variant Table: Variant table displays how frequently variants have been seen in other samples.
Geneticist Assistant can also be used to track coverage statistics over time. Statistics such as percent covered, average coverage, and minimum coverage are reported for each sample as well as historically for a panel. Statistics can be calculated for all the samples that have been added to the panel or specific parameters can be set for calculating statistics - such as a specified date range - or for selected run(s) or sample(s).
Panel Statistics: The Panel Statistics tab reports historical coverage statistics. Statistics can be calculated for all samples included for the panel or for a selected date range, or selected run(s) or sample(s).