AlphaGenome Variant Impact (AVI)
Vintage: 2026-09. Primary evidence is the DeepMind Atlas issuer blog plus official @GoogleDeepMind X text in 2026-09-08-x-10am-deepmind-alphagenome-atlas-9b-variants-addy-osmani. “Best-in-class” on pathogenicity / rare-disease benchmarks is an issuer claim. Collaborator vignettes are issuer-reported, not independently re-verified. Not validated for clinical use.
AlphaGenome Variant Impact (AVI)
One-line summary: Single impact number shipped with alphagenome-atlas that combines alphagenome + AlphaMissense (and other features) to rank variants low→high impact across coding (~2%) and non-coding (~98%) genome. Issuer “best-in-class” — keep attributed.
What it is
A scoring / attribution layer on the Atlas map, not a second base model. Feature attributions named in the issuer blog include splicing, chromatin accessibility, and conservation. Official X says AVI can reveal damage modes (gene switches, RNA splicing).
Why it matters to this thread
Named lab scoring artifacts belong with the Atlas launch so later ingests can attach independent benches without rewriting the map/model split. Clinical disclaimer is load-bearing.
Key facts (from 2026-09-08-x-10am-deepmind-alphagenome-atlas-9b-variants-addy-osmani)
- From 2026-09-08-x-10am-deepmind-alphagenome-atlas-9b-variants-addy-osmani (AlphaGenome Atlas blog, September 8, 2026): AVI score is a single impact number combining AlphaGenome + AlphaMissense; AVI feature attributions (e.g. splicing, chromatin accessibility, conservation).
- From the same source (same blog): AVI framed as working for coding (~2%) and non-coding (~98%) genome; “best-in-class” on many pathogenicity / rare-disease benchmarks (issuer claim).
- From the same source (same blog): collaborator vignettes (issuer-reported) — GREGoR / Broad: AVI prioritized a DNM1 splice-site variant in epileptic encephalopathy, later experimentally supported; Exeter (Hawkes): UK Biobank WGS (~54k) grouping by predicted molecular effects → +22% more non-coding associations; BMI screen on top 1% impactful non-coding variants → 19 genetic regions.
- From the same source (@GoogleDeepMind): AVI combines AlphaGenome, AlphaMissense, other features — rank low→high impact; reveal damage modes (gene switches, RNA splicing).
- From the same source (issuer blog): not a substitute for medical advice; not validated/approved for clinical use.
What this source does not establish
- “Best-in-class” is DeepMind’s claim. No independent bench table fetched this pass.
- Collaborator wins are issuer-reported. No Broad / Exeter / Stowers write-ups fetched.
- AlphaMissense is named as an AVI input only — no AlphaMissense entity page this pass.
- Not clinical. Explicit disclaimer.
- No person pages for Covill, O’Donnell-Luria, Hawkes, Zeitlinger, or Weilert.