variant classification
Aussie Variant Classification Effort Aims to Reduce Uncertainty in Hereditary Blood Cancer Diagnosis
Premium
The researchers hope to determine whether tens of thousands of variants in RUNX1 and GATA2 increase predisposition to blood cancers.
If the Center for Genomic Interpretation's in silico quality assessment catches on with payors, some labs are sure to push back or propose data sharing as an alternative.
Highmark Asks Labs for Additional Validation Data on Cancer NGS Tests; Will Other Insurers Follow?
Premium
The payor wants to see data beyond what is required through CLIA, and recommends labs use the Center for Genomic Interpretation to gauge how well tests detect and interpret variants.
CardioVar Consortium Wins $8.2M From NHLBI to Map Heart Disease Variants, Functional Effects
The investigators hope to eventually create a decision support resource with utility for physicians evaluating genetic test results in heart disease patients.
Centogene Gets CE-IVD Mark for Cloud-Based Genetic Diagnostics Software Platform
CentoCloud provides clinical decision support for variant interpretation and enables laboratories to establish next-generation sequencing-based diagnostic testing.