Hi everyone. I am looking for resources on variant interpretation for monogenic diseases, specifically approaches to resolve Variants of Undetermined Significance. This is the ACMG/AMP standards and guidelines document Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology - PMC
Are there any other resources specific to reclassification of VUS? Thanks in advance for any leads!
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@Johanna.junker, I noticed you’re in GP2’s Monogenic Network Working Group. As such, do you know of any relevant resources on variant interpretation for monogenic diseases?
Or, wondering if you can connect her to peers (either at University of Luebeck or in the Monogenic Network Working Group) who might be able to point her in the right direction?
Yes, absolutely!
I´ll send Roopa some contact options via private chat.
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