「dise」の検索結果

NLM PubTator3 实体级关系挖掘原子 skill — 在 PubMed 文献里检索"疾病-药物-基因-化学品-突变-物种-细胞系"的标注与关系三元组。当用户问"BTK 与肺曲霉病的关联文献"、"BTK 抑制剂(MeSH D000077180)在哪些研究被讨论"、"标注这些 PMID 中提到的所有疾病/药物/基因实体"、"ibrutinib 的 MeSH/DrugBank ID"、"voriconazole 与 CYP2C19 药物-基因相互作用"、"BRAF V600E 突变 / rs113488022 检索"、"实体共现 / co-mention / 关系挖掘 / 实体规范化 / NER / annotation / entity normalization / disease-gene association / drug-gene interaction / chemical-disease relation" 时使用。无需 API key,跨平台稳定。**实体级 + 关系级**定位 — 不做综合文献检索(走 pubmed-eutils / europepmc-search)、不做全文段落抽取(走 bioc-fulltext-fetch)、不做证据等级排序(走 medical-evidence-grading)。

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Use FIRST when user requests any disease market sizing report (e.g. "做 X 市场调研" / "Run market sizing for X"). Elicits 4-6 startup questions (evidence window, geography, international comparison, report depth, user role) and writes .cache/<slug>/contract.json. ALWAYS invoke before disease-market-sizing-orchestration. Validates against schemas/contract.schema.json.

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使用 AACT (Aggregate Analysis of ClinicalTrials.gov) PostgreSQL 数据仓库进行批量、历史、聚合性临床试验数据挖掘。Use this skill when the user requests bulk SQL analysis over the full clinical trials data warehouse — historical trial trends, disease landscapes, similar-design matching, or multi-year aggregations across hundreds of thousands of NCT records. 触发场景包括：AACT 查询、临床试验批量分析、PostgreSQL 试验数据、全量 NCT 检索、试验数据挖掘、历史试验分析、clinical trials data warehouse、SQL trials、bulk trial analysis、disease landscape、试验设计相似性匹配、跨年度聚合、sponsor/phase/country 多维统计。**与 clinical-trials-v2 差异**：本 skill 走批量 SQL · 离线大数据（PostgreSQL）；v2 走实时 API · 单查询。两者互补：单条 NCT 实时状态用 v2，百万级历史挖掘用本 skill。支持云端公共 PostgreSQL（aact-db.ctti-clinicaltrials.org · 零部署）和每日 dump 本地还原（高性能 · 离线）两种连接方式，自动检测优先用本地。跨平台（macOS/Linux/Windows）参数化 SQL 防注入，read-only 强制保护。

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Cross-disease market sizing entry skill. Triggered by user one-liner like "做 X 市场调研" or "Run market sizing for X". Auto-runs 5 phase pipeline: contract → stratify → recall → compose-audit → bundle. Hard-gates on Cite-or-Block: every fact claim must carry citation anchor verifiable against sources/. Resumable mid-run.

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Mendelian randomization (MR) causal inference — does an exposure, risk factor, or biomarker CAUSALLY affect a disease/outcome, using genetic variants as instrumental variables (IEU OpenGWAS / EpiGraphDB MR-EvE). Use this whenever the user asks if X causes Y, whether an observational association is actually causal or just correlation, if a biomarker/trait is a causal risk factor, wants to triangulate epidemiology against genetic evidence, or mentions Mendelian randomization, instrumental-variable analysis, two-sample MR, or genetic causal evidence — even if they never say "MR" (e.g. "is LDL cholesterol actually causal for heart disease?", "does BMI cause type 2 diabetes or just correlate?", "is CRP a causal driver of stroke?"). Covers trait-label resolution, MR effect direction/magnitude, instrument quality (MOE score), method agreement (IVW vs MR-Egger vs weighted median), bidirectional MR for reverse causation, and distinguishing causation from genetic correlation. Not for plain GWAS association lookups (use the GWAS skills) or fitting your own instruments from raw summary statistics.

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Lipid analysis and lipid-disease associations using LIPID MAPS classification, HMDB metabolite data, KEGG/Reactome lipid pathways (sphingolipid, eicosanoid, steroid, fatty acid), and PubChem chemical info. Use for lipid identification, lipid metabolism pathway mapping, and lipid-associated disease analysis (cardiovascular, diabetes, NAFLD).

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Metabolomics pathway analysis — metabolite identification (HMDB, KEGG, ChEBI), pathway mapping (Reactome, KEGG, MetaCyc), disease associations, enzyme/gene linkage. Use for metabolite-to-pathway-to-disease connections, BridgeDb-based ID conversion, and integrating metabolomics with gene-level pathway analyses.

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Node.js、Express、Next.jsのサーバー側開発で、API設計やデータ取得、キャッシュ、認証、エラー処理を整理するスキルです。

• API設計とサーバー処理の役割分担
• 不要なデータベース問い合わせの削減
• キャッシュや非同期処理の導入

REST APIのURL、応答形式、エラー処理を一貫したルールで設計・見直しします。ページ分割や認証、利用回数の制限、バージョン管理まで整理するスキルです。

• 新しいAPIの窓口を設計したいとき
• 既存APIの仕様を見直したいとき
• ページ分割や絞り込みを追加したいとき

遺伝子情報や塩基・アミノ酸配列をggetで検索し、配列の類似性や遺伝子群の特徴を調べながら、結果と検索条件を再確認できる記録にまとめるスキル。

• 遺伝子IDや転写産物を調べたいとき
• 塩基・アミノ酸配列の取得
• BLASTやBLATでの簡易配列検索

A grant proposal on CRISPR base-editing for sickle-cell disease — the hypothesis, the approach, the milestones, and the risk. Built as a decision-grade academic research deck for grant review committee.

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Retrieve disease outbreak alerts and PM2.5 air-quality health warnings. Use when the user asks about current public-health risks in a country, city, or region.

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Queries the CZ CELLxGENE Census programmatically for versioned public single-cell and spatial transcriptomics data. Use when you need population-scale cell metadata, gene expression slices, Census summary counts, source H5AD URIs/downloads, embeddings, spatial Census data, or reference atlas comparisons across organisms, tissues, diseases, assays, and cell types. For analyzing your own local single-cell data use scanpy, anndata, or scvi-tools.

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Ingeniero de Sistemas de Andru.ia. Diseña, redacta y despliega nuevas habilidades (skills) dentro del repositorio siguiendo el Estándar de Diamante.

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Atlassian Confluence expert for creating and managing spaces, knowledge bases, and documentation. Configures space permissions and hierarchies, creates page templates with macros, sets up documentation taxonomies, designs page layouts, and manages content governance. Use when users need to build or restructure a Confluence space, design page hierarchies with permission structures, author or standardise documentation templates, embed Jira reports in pages, run knowledge base audits, or establish documentation standards and collaborative workflows.

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Submit compact HMDB search requests for metabolites, proteins, diseases, and pathways. Use when a user wants concise HMDB summaries

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Generate a therapeutic indication dossier. Covers the patient population, epidemiology, disease biology, standard of care, regulatory precedent, and landmark clinical trials.

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Generate concise (3-4 page), focused medical treatment plans in LaTeX/PDF format for all clinical specialties. Supports general medical treatment, rehabilitation therapy, mental health care, chronic disease management, perioperative care, and pain management. Includes SMART goal frameworks, evidence-based interventions with minimal text citations, regulatory compliance (HIPAA), and professional formatting. Prioritizes brevity and clinical actionability.

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This skill should be used when working with LaminDB, an open-source data framework for biology that makes data queryable, traceable, reproducible, and FAIR. Use when managing biological datasets (scRNA-seq, spatial, flow cytometry, etc.), tracking computational workflows, curating and validating data with biological ontologies, building data lakehouses, or ensuring data lineage and reproducibility in biological research. Covers data management, annotation, ontologies (genes, cell types, diseases, tissues), schema validation, integrations with workflow managers (Nextflow, Snakemake) and MLOps platforms (W&B, MLflow), and deployment strategies.

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Work with Data Commons, a platform providing programmatic access to public statistical data from global sources. Use this skill when working with demographic data, economic indicators, health statistics, environmental data, or any public datasets available through Data Commons. Applicable for querying population statistics, GDP figures, unemployment rates, disease prevalence, geographic entity resolution, and exploring relationships between statistical entities.

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Unified biological database evidence owner. Use for gene annotation, variant clinical significance, cancer mutation evidence, GWAS trait associations, pathway mapping, target-disease evidence, protein structures, protein interaction networks, reference single-cell census queries, and cross-database biological ID mapping. Do not use for full single-cell analysis, bulk RNA-seq differential expression, BAM/VCF processing, protein embedding models, metabolic flux modeling, genomic interval ML, or flow-cytometry file parsing.

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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.

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Use when you want to retrieve quantitative RNA expression data and variant eQTL information from the GTEx (Genotype-Tissue Expression) Project across 54 non-diseased tissue sites.

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Query Open Targets Platform for target-disease associations, drug target discovery, tractability/safety data, genetics/omics evidence, known drugs, for therapeutic target identification.

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