Read more about how the new ACMG scoreboard can refine your genomic case review.
📰Hello, ACMG scoreboard. Goodbye, external calculator tools.
The most recent version of NxClinical, the leading copy number variation (CNV) analysis software for clinical cytogenetics and molecular labs, now includes an integrated ACMG guidelines scoreboard feature.
The ACMG scoreboard provides a formal reasoning structure that standardizes CNV event classification and ultimately helps reduce errors in classifying events by eliminating the need to use external tools.
In addition to using the scoreboard as a stand-alone guideline, this new feature can also be coupled with NxClinical's popular automated variant pre-classification decision tree to pre-classify events. This allows analysts to quickly sort through the events on the table and prioritize for review.
📰Hello, ACMG scoreboard. Goodbye, external calculator tools.
Presented by: Amber Boys, Senior Medical Scientist in the Division of Genetics and Genomics at the Victorian Clinical Genetics Services (VCGS), Melbourne
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