alphagenome
FeaturedLook up precomputed AlphaGenome Atlas effects for any GRCh38 single-nucleotide variant (AVI score with Phred and 18 SHAP feature attributions, plus raw and quantile scores for RNA-seq, DNase, ATAC, ChIP-TF, ChIP-histone, CAGE, PRO-cap, splicing, polyadenylation and contact-map tracks), score variants or scan windows on demand with the AlphaGenome model for human and mouse (variant scoring, in silico mutagenesis, REF-versus-ALT track prediction), and build Atlas website deep links. Use when the user mentions AlphaGenome, AlphaGenome Atlas, AVI or AlphaGenome Variant Impact, DeepMind variant effect prediction, or wants to prioritise or mechanistically interpret non-coding, regulatory, splicing, enhancer, promoter, or chromatin-accessibility effects of SNVs from a VCF, credible set, or region. Research use only; not a clinical tool.
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Quality Score: 99/100
Skill Content
Details
- Author
- K-Dense-AI
- Repository
- K-Dense-AI/scientific-agent-skills
- Created
- 11 months ago
- Last Updated
- 5 days ago
- Language
- Python
- License
- MIT
Similar Skills
Semantically similar based on skill content — not just same category
genomic-intelligence
Predict regulatory features, gene structure, and expression directly from DNA sequence using Genomic Intelligence's hosted transformer DNA language models — no local GPU or model weights. Six tasks over a REST API and a hosted MCP server (keyless public demo): promoter regions, splice donor/acceptor sites, enhancer activity, chromatin state, sequence-to-expression (log TPM), and de-novo gene annotation, plus a composite find-genes-then-predict-expression workflow. Use when the user has a gene symbol, a genomic region, or a DNA/FASTA sequence and wants any of these predictions, mentions Genomic Intelligence, genomicintelligence.ai, api.genomicintelligence.ai, or mcp.genomicintelligence.ai.
alterlab-borzoi
Predict genome-wide functional genomics tracks from DNA sequence with Borzoi (Linder 2025) — a sequence-to-function model outputting RNA-seq, CAGE, ATAC, and ChIP coverage across long context, used to score non-coding and regulatory variant effects. Use when predicting functional tracks from a DNA sequence, scoring a non-coding/regulatory variant's effect on expression or chromatin, or doing in-silico mutagenesis of a locus. To LOOK UP a variant's population frequency prefer alterlab-gnomad; for its clinical significance prefer alterlab-clinvar; for protein-structure effects prefer alterlab-alphafold; for single-cell foundation models prefer alterlab-scgpt. Part of the AlterLab Academic Skills suite.
genomics-precision-medicine
When the user wants to design, build, or integrate genomics and precision-medicine informatics. Use when the user mentions "genomics," "precision medicine," "VCF," "gVCF," "BAM," "CRAM," "FASTQ," "variant calling," "variant annotation," "HGVS," "ACMG," "AMP/CAP/ASCO," "ClinGen," "ClinVar," "PharmGKB," "CPIC," "pharmacogenomics," "PGx," "GA4GH," "VRS," "Phenopackets," "FHIR Genomics," "mCODE," "molecular tumor board," "liquid biopsy," "ctDNA," "MRD," "polygenic risk score," "PRS," "incidental findings," "ACMG SF," "GINA," "GRCh38," or "T2T-CHM13." For broader clinical AI lifecycle, see clinical-ai-ml. For SaMD on genomic algorithms, see fda-samd. For the EHR integration of orders/results, see ehr-integration and fhir-integration.