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Found 105 Skills
Provide differential diagnosis for patients with suspected rare diseases based on phenotype and genetic data. Matches symptoms to HPO terms, identifies candidate diseases from Orphanet/OMIM, prioritizes genes for testing, interprets variants of uncertain significance. Use when clinician asks about rare disease diagnosis, unexplained phenotypes, or genetic testing interpretation.
Build and interpret polygenic risk scores (PRS) for complex diseases using GWAS summary statistics. Calculates genetic risk profiles, interprets PRS percentiles, and assesses disease predisposition across conditions including type 2 diabetes, coronary artery disease, and Alzheimer's disease. Use when asked to calculate polygenic risk scores, interpret genetic risk for complex diseases, build custom PRS from GWAS data, or answer questions like "What is my genetic predisposition to breast cancer?"
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.
TCGA/GDC cancer genomics analysis -- cohort construction, clinical metadata retrieval, somatic mutation profiling, copy number variation analysis, survival analysis, and clinical variant interpretation. Use when users ask about TCGA data, GDC cancer cohorts, somatic mutation frequencies, Kaplan-Meier survival, CNV profiles in cancer, or OncoKB interpretation of cancer variants.
Retrieves gene expression and omics datasets from ArrayExpress and BioStudies with gene disambiguation, experiment quality assessment, and structured reports. Creates comprehensive dataset profiles with metadata, sample information, and download links. Use when users need expression data, omics datasets, or mention ArrayExpress (E-MTAB, E-GEOD) or BioStudies (S-BSST) accessions.
Comprehensive drug-drug interaction (DDI) prediction and risk assessment. Analyzes interaction mechanisms (CYP450, transporters, pharmacodynamic), severity classification, clinical evidence grading, and provides management strategies. Supports single drug pairs, polypharmacy analysis (3+ drugs), and alternative drug recommendations. Use when users ask about drug interactions, medication safety, polypharmacy risks, or need DDI assessment for clinical decision support.
Detect and analyze adverse drug event signals using FDA FAERS data, drug labels, disproportionality analysis (PRR, ROR, IC), and biomedical evidence. Generates quantitative safety signal scores (0-100) with evidence grading. Use for post-market surveillance, pharmacovigilance, drug safety assessment, adverse event investigation, and regulatory decision support.
Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".
Search and analyze cryo-EM maps, single particle structures, tomography datasets, and raw micrograph data from EMDB, EMPIAR, and CryoET Data Portal. Cross-reference with PDB structures and AlphaFold predictions. Use for cryo-EM map discovery, structure fitting analysis, raw data access, and tomography exploration.
Drug regulatory and approval research -- FDA substance registry lookup, drug classification by ATC/EPC/MoA via RxClass, Orange Book generic availability and patent status, DailyMed label parsing (adverse reactions, dosing, contraindications), and clinical trial search. Use when users ask about FDA-approved drugs, drug regulatory status, generic availability, patent expiration, drug class membership, drug labeling, or substance identification.
Analyze drug safety signals from FDA adverse event reports, label warnings, and pharmacogenomic data. Calculates disproportionality measures (PRR, ROR), identifies serious adverse events, assesses pharmacogenomic risk variants. Use when asked about drug safety, adverse events, post-market surveillance, or risk-benefit assessment.
Find, characterize, and source small molecules for chemical biology and drug discovery. Covers compound identification (PubChem, ChEMBL), structure search, binding affinity data, ADMET/drug-likeness prediction, and commercial availability (eMolecules, Enamine). Use when asked to find compounds, assess drug-likeness, search by structure, retrieve binding affinities, or source chemicals.