Genome in a Bottle Benchmarks for Training and Testing AI-Based Variant Callers

Description: The Genome in a Bottle Consortium develops benchmarks for human genome variant calling in normal and cancer samples. These benchmarks are frequently used for training and testing variant callers, including AI-based approaches.

Learning Objectives:
1. Why comprehensive benchmarks are important for understanding the accuracy of variant callers, particularly AI-based approaches
2. How we stratify the genome into different categories of challenging variants and regions
3. Important differences between training variant callers for germline vs. somatic variants