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variant classification

Laboratories that purchase PGDx Elio genomic profiling tests will receive access to Qiagen's QCI Interpret One for rapid, evidence-based variant interpretation.

The deal builds on a non-exclusive partnership signed in January 2019 and PierianDx will now support three more Illumina cancer sequencing assays.

Invitae said YouScript and Genelex will enable it to provide pharmacogenomic testing, while Diploid will help interpret WGS results.

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.

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

The firm hopes to return fewer VUS in its test reports and to accelerate the resolution of uncertain results issued to patients in that past.

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.

The firm said genomic testing volume rose 23 percent year over year, and raised its revenue guidance for full-year 2018.

Malaysia-based ScienceVision has agreed to commercialize and distribute the PierianDx Clinical Genomics Workspace platform in Southeast Asian countries.

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