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Found 77 Skills
Query the Ensembl database to resolve gene, transcript, and protein IDs, fetch genomic or protein sequences, retrieve gene structures (exons), and get variant consequence and effect predictions (VEP). Use this skill as a primary ID translator, genomic sequence database and variant effect prediction tool.
Identify domains, families, and sites in proteins; find all proteins in a family or sharing a domain; explore species distribution for a domain; annotate genomes with protein families and GO terms. InterPro combines 14 databases (e.g., Pfam, CDD) into one searchable resource. InterPro-N significantly expands annotation and sequence coverage with deep learning. Includes domain architecture (IDA) search.
Use when needing clinical significance, pathogenicity classifications (e.g., Pathogenic, Benign, VUS), clinical evidence rationales, or finding "hard positive" benchmark controls for human genomic variants.
Provide comprehensive clinical interpretation of somatic mutations in cancer. Given a gene symbol + variant (e.g., EGFR L858R, BRAF V600E) and optional cancer type, performs multi-database analysis covering clinical evidence (CIViC), mutation prevalence (cBioPortal), therapeutic associations (OpenTargets, ChEMBL, FDA), resistance mechanisms, clinical trials, prognostic impact, and pathway context. Generates an evidence-graded markdown report with actionable recommendations for precision oncology. Use when oncologists, molecular tumor boards, or researchers ask about treatment options for specific cancer mutations, resistance mechanisms, or clinical trial matching.
This skill should be used when the user needs to query COSMIC Cancer Gene Census to check if genes are known cancer genes. Triggers include requests to annotate genes with cancer information, check if variants are in cancer genes, or retrieve cancer gene properties from COSMIC database.
Cross-species gene and sequence comparison, ortholog analysis, and evolutionary conservation assessment using ToolUniverse tools. Use when comparing genes across species, finding orthologs, analyzing evolutionary conservation, or performing comparative functional annotation.
Integrate structural biology data with proteomics for drug target validation. Retrieves protein structures from PDB (RCSB, PDBe), AlphaFold predictions, antibody structures (SAbDab), GPCR data (GPCRdb), binding pocket analysis (ProteinsPlus), and ligand interactions (BindingDB). Use when asked to find structures for a drug target, identify binding site ligands, cross-validate drug binding with structural data, assess structural druggability, or compare experimental vs predicted structures.
Detect, classify, and QC viral contigs.
Ingest, QC, and map reads with reproducible outputs. Use for raw read processing and coverage stats.
Build marker gene alignments and phylogenetic trees.
Connect GWAS variants to biological pathways for drug target discovery. Maps disease-associated SNPs to causal genes via eQTL colocalization (GTEx), links genes to enriched pathways (Reactome, KEGG, MetaCyc), and identifies druggable targets within disease-relevant pathways. Use when asked to translate GWAS findings into mechanistic insights, find pathways enriched for disease genes, discover drug targets from genetic evidence, or answer questions like "What pathways are disrupted in type 2 diabetes based on GWAS data?"
Analyze non-coding RNAs (miRNAs, lncRNAs, circRNAs) using miRBase, LNCipedia, RNAcentral, Rfam, and target prediction databases. Covers ncRNA identification, target prediction, disease associations, expression profiling, and functional annotation. Use when asked about microRNAs, long non-coding RNAs, RNA interference, miRNA targets, lncRNA function, or ncRNA-disease associations.