variant classification
AMP, NSGC Issue New Recommendations for Confirming Germline Variants From NGS Tests
The guidelines are the product of a working group convened by the Association for Molecular Pathology that assessed the literature, surveys, and public comment.
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?
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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.
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.
Broad Institute, Collaborators Eye CRISPR Panel to Detect SARS-CoV-2 Variants, Respiratory Viruses
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The group has developed a panel to detect SARS-CoV-2, other coronaviruses, and influenza A and B that also identified and differentiated six variant lineages.