Results for “dise”

Explore gene, drug, disease, and phenotype associations in a downloaded PrimeKG CSV. Retrieve direct relationships, disease summaries, and paths through one intermediate node while preserving relationship types and data provenance for reproducible research and hypothesis generation.

• Checking associations between genes, drugs, and diseases
• Summarizing genes, drugs, and phenotypes linked to a disease
• Exploring short paths between two entities

Retrieve focused target, disease, drug, variant, and study data from Open Targets Platform. Produce concise summaries or disease-by-source evidence matrices to compare available evidence while keeping queries and returned results compact.

• Summarize information about a target or disease
• Look up drug, variant, or study data
• Compare disease evidence scores across data sources

Generates complete dual-disease shared-transcriptome biomarker and hub-gene research designs from a user-provided disease pair and shared-biology direction. Always use this skill whenever a user wants to design, plan, or build a non-oncology two-disease transcriptome study centered on per-disease differential expression, shared-signal intersection or concordance, PPI-based hub-gene prioritization, diagnostic evaluation across both diseases, immune infiltration context, pathway interpretation, and optional orthogonal validation. Covers five study patterns (shared-DEG-first workflow, hub-gene-first shared-biomarker workflow, hybrid shared-biomarker compression workflow, immune-context shared-biomarker workflow, orthogonal validation workflow) and always outputs four workload configs (Lite / Standard / Advanced / Publication+) with recommended primary plan, step-by-step workflow, figure plan, validation strategy, minimal executable version, publication upgrade path...

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Use ENCODE functional genomics data for disease mechanism research. Use when the user wants to connect GWAS variants to regulatory elements, annotate disease-associated loci with functional data, identify therapeutic targets from epigenomic data, build disease regulatory models, cross-reference with clinical trials and drug databases, or conduct any disease-focused, pathology-driven, or clinical variant interpretation workflow. Covers the full pipeline from disease-tissue mapping through GWAS variant annotation, heritability enrichment, cancer epigenomics, drug target identification, and clinical trial cross-referencing. Integrates ENCODE with Open Targets, PubMed, ClinicalTrials.gov, and bioRxiv.

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Query OpenTargets for drug targets, disease associations, and therapeutic evidence. Use when user asks about drug targets, disease mechanisms, target validation, or drug-disease associations. Triggers on "opentarget", "drug target", "target validation", "disease association", "therapeutic target", "drug for disease".

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KEGG-based disease-drug-variant network research. Connects diseases to causal genes, drugs to molecular targets, and variants to pathways using KEGG's editorially curated databases (KEGG Disease, Drug, Network, Variant, Pathway). Use for drug repurposing via shared pathways, mechanistic disease-gene-drug networks, and pathway-based target discovery. Distinguishes direct (binding) vs indirect (pathway co-membership) drug-target relationships.

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Retrieve disease outbreak alerts and air-quality health warnings for countries and cities. Review disease summaries, alert levels, sources, and fine-particle pollution readings to understand reported public-health risks in a location.

• Review disease outbreak alerts for a country
• Check city health warnings from PM2.5 pollution
• Organize health alerts with sources and timestamps

Match scientific labels to ontology identifiers, standardized IDs for concepts such as tissues, cell types, and diseases. Checks existing IDs, labels, obsolete terms, and prefixes to support metadata annotation, submission preparation, and table audits.

• Annotating tissue, cell type, or disease fields with standard IDs
• Auditing metadata tables for incorrect IDs and labels
• Checking obsolete terms and available replacements

Retrieve public evidence and linked publications for a supported genetic variant, or look up gene–disease relationships. Preserve sources, conflicting assertions, and explicit search outcomes so qualified professionals can review the findings.

• Review public evidence for a single genetic variant
• Find publications linked to a resolved variant
• Look up gene–disease relationships

Generates complete cross-disease shared-biomarker bioinformatics research designs from a user-provided disease pair and validation direction. Always use this skill whenever a user wants to design, plan, or build a multi-dataset study linking two related diseases through shared DEGs, enrichment, PPI hub genes, public validation, regulatory-network analysis, immune infiltration, drug-gene interaction screening, and optional qRT-PCR or cell-line validation. Covers five study patterns (shared-DEG discovery, hub-gene prioritization, regulatory-network interpretation, immune/drug follow-up, bioinformatics-plus-validation) and always outputs four workload configs (Lite / Standard / Advanced / Publication+) with recommended primary plan, step-by-step workflow, figure plan, validation strategy, minimal executable version, publication upgrade path, and a strictly verified reference literature retrieval layer with real references only.

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Detects aberrant splicing in single rare-disease patients vs a control panel using FRASER 2.0 (Bioconductor; Beta-binomial autoencoder on Intron Jaccard Index, default delta cutoff 0.1, q hyperparameter), OUTRIDER (gene-level outlier expression via autoencoder denoising), LeafcutterMD (Dirichlet-multinomial outlier mode of LeafCutter for annotation-free junctions), and DROP (Snakemake pipeline integrating FRASER2 + OUTRIDER + monoallelic expression for clinical diagnostics). The statistical model is fundamentally different from differential splicing — single-sample-vs-cohort outlier detection rather than two-group comparison. Standard tool in EU rare-disease (Solve-RD) and NIH UDN programs. Use when applying RNA-seq to undiagnosed Mendelian disease, validating predicted splice variants in clinical samples, or detecting cryptic splicing in disease tissue.

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Query the Open Targets Platform GraphQL API for target-disease associations, genetic and clinical evidence, tractability and safety liabilities, target prioritisation metrics, known drugs and mechanisms of action, and disease ontology. Use this skill for target identification and validation, target-disease evidence review, druggability assessment, drug repurposing, and resolving gene, disease, and drug names to Ensembl, MONDO, and ChEMBL identifiers. Also trigger when a query mentions Open Targets, platform.opentargets.org, association scores, tractability buckets, or api.platform.opentargets.org.

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Query the Precision Medicine Knowledge Graph (PrimeKG) for multiscale biological relationships across genes and proteins, drugs, diseases, phenotypes, pathways, biological processes, exposures and anatomy. Use this skill to search entities by name, pull direct neighbours and their evidence types, summarise the local network around a disease, and find direct or two-hop drug-disease connections for repurposing hypotheses. Also trigger on PrimeKG, kg.csv, Harvard Dataverse knowledge graph, disease_protein, drug_protein, indication and contraindication edges, or network pharmacology over a biomedical knowledge graph.

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This skill suggests pituitary-directed medical treatments (e.g., cabergoline, pasireotide) for patients with Cushing's disease who are not surgical candidates or have persistent disease after transsphenoidal surgery. Use when a CD patient cannot undergo surgery or has residual disease post-TSS; triggers include "not a surgical candidate", "persistent disease after TSS", "ongoing hypercortisolism despite prior surgery".

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Detects aberrant splicing in single rare-disease patients vs a control panel using FRASER 2.0 (Bioconductor; Beta-binomial autoencoder on Intron Jaccard Index, default delta cutoff 0.1, q hyperparameter), OUTRIDER (gene-level outlier expression via autoencoder denoising), LeafcutterMD (Dirichlet-multinomial outlier mode of LeafCutter for annotation-free junctions), and DROP (Snakemake pipeline integrating FRASER2 + OUTRIDER + monoallelic expression for clinical diagnostics). The statistical model is fundamentally different from differential splicing — single-sample-vs-cohort outlier detection rather than two-group comparison. Standard tool in EU rare-disease (Solve-RD) and NIH UDN programs. Use when applying RNA-seq to undiagnosed Mendelian disease, validating predicted splice variants in clinical samples, or detecting cryptic splicing in disease tissue.

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Detects aberrant splicing in single rare-disease patients vs a control panel using FRASER 2.0 (Bioconductor; Beta-binomial autoencoder on Intron Jaccard Index, default delta cutoff 0.1, q hyperparameter), OUTRIDER (gene-level outlier expression via autoencoder denoising), LeafcutterMD (Dirichlet-multinomial outlier mode of LeafCutter for annotation-free junctions), and DROP (Snakemake pipeline integrating FRASER2 + OUTRIDER + monoallelic expression for clinical diagnostics). The statistical model is fundamentally different from differential splicing — single-sample-vs-cohort outlier detection rather than two-group comparison. Standard tool in EU rare-disease (Solve-RD) and NIH UDN programs. Use when applying RNA-seq to undiagnosed Mendelian disease, validating predicted splice variants in clinical samples, or detecting cryptic splicing in disease tissue.

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Search HMDB for metabolites, proteins, diseases, or pathways and receive concise Markdown summaries. Keep searches focused on one category, with an option to save the full response when more detail is needed.

• Look up a metabolite such as serotonin
• Find pathways related to glycolysis
• Search for proteins or diseases

Generates complete single-compound network-toxicology research designs from one exposure, one disease or toxic phenotype, and a validation direction. Use when a study centers on one compound–one disease link and needs target collection, overlap construction, enrichment, PPI hub prioritization, docking, optional transcriptomic cross-check, and conservative mechanistic synthesis. Covers five study patterns and always outputs Lite / Standard / Advanced / Publication+ with a recommended primary plan, stepwise workflow, figure plan, validation hierarchy, minimal executable version, publication upgrade path, and strictly verified literature retrieval.

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Prioritizes rare-disease variants from trio/quad WES/WGS with de novo (DeNovoGear, Triodenovo), compound-heterozygous phasing (WhatsHap), mosaic VAF tiering, phenotype-driven ranking (Exomiser, Phen2Gene, AMELIE), ClinGen gene-disease validity gating, and ACMG SF v3.2 secondary findings reporting. Use when running diagnostic exome / genome pipelines, identifying candidate Mendelian disease genes, screening for incidental findings, or auditing VUS reclassification cycles. The ACMG/AMP classification framework (PVS1 decision tree, Pejaver PP3/BP4 calibration, Tavtigian point system) is in clinical-databases/acmg-classification.

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Monarch Initiative knowledge graph REST API for disease-gene-phenotype associations and cross-species orthology. MONDO disease-to-gene/phenotype, HP phenotype profiles, cross-species comparisons. Use for rare disease gene prioritization and phenotype-based candidate ranking. For GWAS use gwas-database; for clinical pathogenicity use clinvar-database.

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Think and work like an expert Infectious Disease Specialist. Use when a task calls for Infectious Disease Specialist judgment. Reasons from the host-pathogen-antimicrobial triangle, source control, and local resistance through IDSA/CLSI M100 breakpoints, PK/PD targets (vancomycin AUC24 400-600, beta-lactam time-above-MIC), and diagnostics like MALDI-TOF, BioFire panels, and galactomannan while treating colonization-versus-infection, blood-culture contaminants, and noninfectious fever mimics (drug fever, IRIS) as first-class failure modes.

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Prioritizes rare-disease variants from trio/quad WES/WGS with de novo (DeNovoGear, Triodenovo), compound-heterozygous phasing (WhatsHap), mosaic VAF tiering, phenotype-driven ranking (Exomiser, Phen2Gene, AMELIE), ClinGen gene-disease validity gating, and ACMG SF v3.2 secondary findings reporting. Use when running diagnostic exome / genome pipelines, identifying candidate Mendelian disease genes, screening for incidental findings, or auditing VUS reclassification cycles. The ACMG/AMP classification framework (PVS1 decision tree, Pejaver PP3/BP4 calibration, Tavtigian point system) is in clinical-databases/acmg-classification.

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Phase 2 of disease-market-sizing-orchestration. Discovers disease-specific stratification dimensions by citing guideline sections from sources/guidelines/. ALWAYS uses cite-based discovery — NEVER built-in stratification templates. Output: .cache/<slug>/staging.json. Use AFTER contract-elicitor and AFTER A1' guidelines fetch.

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Identify drug repurposing candidates via target-based, compound-based, and disease-based strategies. Combines drug-target-disease network reasoning with mechanism rationale, clinical-trial precedent, and patent/regulatory feasibility. Use for hypothesis-generating repurposing for orphan diseases, finding existing drugs for new indications, and prioritizing candidates by evidence and feasibility.

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