Mastering Variant Classification
From the fundamental 2015 guidelines to advanced Bayesian frameworks and AI integration. The definitive guide for the modern variant scientist.
Introduction to Variant Classification
Understand the precision medicine imperative, the history of variant interpretation, and the chaos that preceded the 2015 ACMG guidelines.
The 28 ACMG/AMP Criteria Explained
A deep dive into the periodic table of interpretation. We dissect every code from PVS1 to BP7, explaining their definitions and nuances.
Evidence Gathering & Databases
Learn how to navigate the genomic data ecosystem. Master the use of gnomAD, ClinVar, and in-silico tools to build your evidence case.
Combining Evidence: The Bayesian Framework
Move beyond rigid rules. Learn how to use the Tavtigian Bayesian point system to calculate posterior probabilities and resolve conflicts.
Common Pitfalls & How to Avoid Them
Even experts make mistakes. We explore the most common errors, including double-counting evidence and falling for the phenotype trap.
Advanced Topics & Future Directions
The future is here. Explore how AI (AlphaMissense), MAVE data, and the upcoming ACMG v4.0 guidelines are reshaping the field.