Hi everyone! I’m a final-year B.Sc. Biomedical Sciences student working with my team on an academic bioinformatics project focused on hereditary cancer variants.

We’re developing a research prototype that compares submitted sequences with reference sequences, annotates detected variants, and brings together information from public variant databases. We’re also exploring how to present selected ACMG/AMP evidence criteria transparently, while keeping database classifications separate from our tool’s own evidence assessment.

I’m still learning, and I’d appreciate constructive input from people with experience in variant interpretation or bioinformatics:

How would you design a realistic validation set for an undergraduate project?

What mapping or annotation errors should we specifically test for?

How should we handle conflicting database evidence or unavailable results?

What would make the evidence report useful and scientifically clear?

Are there papers or validation resources you would recommend?

We’ve…