Clinical variant prioritization guidelines focus almost only on coding variants
anshulkundaje · x · 2026-09-18
- Most clinical variant prioritization guidelines have focused almost exclusively on variants disrupting protein-coding sequence.
- The single-aggregate-score approach has historically been a convenience: humans find it hard to reconcile different scores and to set clear clinical triage guidelines.
Related event: Stanford Expert's Deep Dive on DeepMind's AlphaGenome AVI Score(29 posts)→
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