Article
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
The Journal of molecular diagnostics : JMD - 1 Oct 2022
Drackley Andy, Brew Casey, Wlodaver Alissa, Spencer Sara, Leuer Katrin, Rathbun Pamela, Charrow Joel, Wieneke Xuwen, Yap Kai Lee, Ing Alexander
Abstract excerpt
In 2019, the American College of Medical Genetics and Genomics and the Clinical Genome Resource published updated technical standards for the interpretation and reporting of copy number variants (CNVs), introducing a semiquantitative classification system to improve standardization and consistency between laboratories. Evaluation of these guidelines' performance will inform laboratories about the impact of their...
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