Detecting a DNA change in sequencing reads and predicting what that change does are different tasks. A model can perform well on one benchmark without being suitable for the next step in a diagnostic pipeline.

This guide separates those tasks, links the evaluations behind the model recommendations, and includes hardware requirements and a frozen-embedding example for DNA sequence classification.

I would value corrections from people learning or working with these tools: which distinctions are still unclear, which independent evaluations are missing, and where do the recommendations go beyond the evidence? A specific passage or paper would help me revise it.

https://rewirebio.io/blog/genomic-foundation-models-in-the-diagnostic-lab/

Disclosure: this is my site. This post and explanatory diagram were prepared with AI assistance. The guide is not a validated clinical protocol.