Geneticist Assistant NGS Interpretative
Workbench automatically monitors
coverage depth, flagging regions
to the base level that do not meet
your pre-set requirements. The software
will track over time the amplicon
or regions' performance, providing
feedback on the sequence performance,
which may alert you to areas that
require performance improvement.
Quality control requirements are easily
set in the Quality Control tab, the
software will then monitor the sequence
performance to the base level, indicating
regions of non-performance.
Quality data is presented for both
the current sample and a complete
history of analysis of all samples
for a disease panel. Metrics provided
include Minimum Coverage, Average
Coverage, % Covered across region,
and Pass/Fail Status of current run.
Historical data includes average coverage
of all runs, average percent covered,
absolute Pass/Fail counts, total samples
for the region, and passed percentage.
Sequencing that often fails is easily
reviewed, allowing user to determine
and correct cause of sequencing failures.
Importantly, Geneticist Assistant
NGS Interpretative Workbench, monitors
areas of clinical significance providing
a quick review of missed clinical
variants as determined by the ClinVar