These sessions provided valuable insights into the upcoming acmg v4 guidelines Work with ashg, acmg, nsgc, topmed, cser2, and others to build consensus recommendations/guidelines on the use of race, ethnicity, and ancestry in clinical genetics and genomics research In this blog, we highlight key observations and updates compared to the previous version.
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The forthcoming v4 revision introduces foundational changes to how genetic variants are interpreted, moving beyond static rules to a more structured and quantitative approach.
These guidelines describe a framework for classifying variants as “pathogenic”, “likely pathogenic”, “uncertain significance”, “likely benign” or “benign” according to a series of criteria with levels of evidence defined as very strong, strong, moderate or supporting.
Herein, we attempt to expand the acmg guidelines into a general variant classification framework that takes into account not only the continuum of clinical phenotypes, but also the continuum of the variants' genetic effects, and the different pathological roles of the implicated genes. Workshops are expected to include interactive components National human genome research institute (nhgri) ambry genetics. In the field of inherited cancer predisposition, the concept that risk of a specific cancer lies on a continuum (rather than based on a binary classification) of a germline pathogenic or likely pathogenic variant, is becoming increasingly important to consider.
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