We are excited to share our latest publication with The Journal of Precision Medicine, “Implementing the ACMG Guidelines for CNV in a Commercial Software Solution”.
“In 2020, ACMG in collaboration with the ClinGen working group developed a new set of guidelines for the clinical interpretation of CNVs. While these
guidelines provide a robust set of rules for interpreting intragenic deletions and duplications, the implementation of these guidelines in a clinical setting can be quite complex. To address this complexity, we have developed a comprehensive workflow to guide users through the clinical
interpretation of CNVs in accordance with the new guidelines. Golden Helix is the first commercial company to implement these guidelines in a
guided clinical workflow and the examples described above illustrate the way in which this tool reduces the complexity of the interpretation
process. Such tools are essential for streamlining the clinical interpretation process, reducing decision fatigue, and ensuring the repeatability of clinical workflows.”
Fortier, N., , Rudy, G., & Scherer, A. (2021). Implementing the ACMG Guidelines for CNV in a Commercial Software Solution. The Journal of Precision Medicine, 7(1), 43-49. Retrieved from https://www.thejournalofprecisionmedicine.com/wp-content/uploads/acmg-scherer.pdf
If you are interested in previewing the new VSClinical ACMG-CNV workflow, we suggest checking out these on-demand webcasts below. Or, request a personalized demo from our team at info@goldenhelix.com.