variant classification
BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions
Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients.
Qiagen Launches 'Digital Partner' Program to Expand Bioinformatics Reach
Initial partners in the program include Thermo Fisher Scientific, GNS Healthcare, DNAnexus, Personal Genome Diagnostics, and the Wellcome Sanger Institute.
PGDx, Qiagen Partner on Clinical Decision Support for Molecular Cancer Testing
Laboratories that purchase PGDx Elio genomic profiling tests will receive access to Qiagen's QCI Interpret One for rapid, evidence-based variant interpretation.
Illumina, PierianDx Expand Partnership on Cancer Panel Test Reporting
The deal builds on a non-exclusive partnership signed in January 2019 and PierianDx will now support three more Illumina cancer sequencing assays.
The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.