Individual skill

alphagenome-single-variant-analysis

Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors using the AlphaGenome API. Use when the user asks about non-coding variant effects, pathogenicity, clinical significance, disease associations, functional effects, gene expression changes, splicing disruption, or regulatory effects in promoters and enhancers. Also use for resolving biological terms to tissue/cell-type ontologies (UBERON/CL) or analyzing variants in chr:pos:ref>alt format.

science-skills/alphagenome_single_variant_analysis/SKILL.md

Source commit 9a4b2db21fc4b217136ae4a0e6faad42d179ca03

What was checked

Matches the observed repository HEAD

Yes

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No

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No

Observed behavior

Not checked yet

Last checked

Nov 7, 2026

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