Coverage Utilities

As exome-wide and genome-wide genomic sequencing tests become increasingly common in healthcare, clinical specialists need tools to assess and verify the quality of the test results and
record any clinically significant impacts.

Problem

Genetic variations as assessed by sequencing tests are becoming a larger part of clinical care. Traditional software systems have had difficulties in handling the data from these technologies. These sequencing tests are susceptible to experimental error, and strict controls over the quality of the sample results need to be monitored and maintained before passing the variants on to genetic counselors and consultants to assess the clinical impact. The original tools used to assess this type of information were not built to scale, and therefore there was a need for a tool that would provide quality assessments of sequencing results for all genes or for the entire genome.

Solution

The VA Group worked with Mayo Clinic developers to create the Coverage Utility, a specialized tool for evaluating the depth of sequence coverage in regions of interest from the results of a single sample sequencing test. This interface allows users to review the coverage quality information in tabular or graphical interfaces with low coverage regions flagged for follow up. Reviewers are able to closely examine these low coverage events within the sample, compare to historical results for the related test, and decide which course of action is needed to address the issue.