Resources for sequence variant interpretation

rooparajan
Wed, 27 Sep 2023 06:13:56 +0000
Accessing and Understanding Data

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!

3 posts - 3 participants