D
Dr. Harry Seldon
Video
Variant Effect Prediction with Genomic Foundation Models
Scoring how much a model's likelihood changes when a base is substituted gives a zero-shot estimate of that variant's functional impact. This finally attacks the noncoding variants that conservation and coding-centric predictors leave unclassified.
Questions this Concept answers
- Explain why noncoding variants have historically been much harder to interpret than coding ones.