variants of unknown significance
Clinical Validation of Cancer Genome Interpretation Platform at Heart of New €10M European Project
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Among the objectives of the CGI-Clinics effort is to have a CE-IVD marked analysis tool available by the end of 2027.
The guidelines come at a time of a shift in the field toward clinical whole-genome sequencing and away from targeted assays and whole-exome sequencing.
New ESHG Recommendations for Clinical Whole-Genome Sequencing Show Differences From US Guidelines
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Previous guidelines for clinical NGS, published by the society in collaboration with EuroGenTest in 2016, focused mainly on whole-exome sequencing.
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.
The partners hope that the relationship will expand the reach of the COSMIC database for somatic tumor mutations while also fine-tuning future technology development.