need help

[u/Due-Suggestion5934]

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 tested some examples, but we’re still working on systematic validation. This is a research project, not a clinical diagnostic tool.

Since it’s an ongoing team dissertation project, I’m keeping the source code and detailed implementation private for now. I can discuss the general approach and share selected, anonymised examples if helpful.

I’m mainly looking for methodological feedback and suggestions about what we might be overlooking. Thank you!

Repost to another community 56 views See More Insights

Share Comments Section

Be the first to comment

Nobody's responded to this post yet. Add your thoughts and get the conversation going.

Help lead our community Apply to be a moderator

Dismiss Apply Created Apr 22, 2024 Public 80158 MODERATORS Message Mods u/onehellasleeper View all moderators Reddit Rules Privacy Policy User Agreement Accessibility