Following a lengthy discovery period, the lab is asking a South Carolina federal district court to find in its favor and decide that its negligence did not result in the death of Williams' son.
In seven years, the public variant classification database has steadily become a resource that labs are submitting to and that genetics experts are consulting.
With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
Malaysia-based ScienceVision has agreed to commercialize and distribute the PierianDx Clinical Genomics Workspace platform in Southeast Asian countries.
Three vendors applied their variant calling and interpretation pipelines to the same tumor NGS panel data and came up with overlapping but different results.
The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.
Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.
