'database' 검색 결과

Download genome assemblies, gene records, and ortholog data from NCBI using the modern Datasets v2 CLI (replaces assembly_summary.txt scraping and many EFetch workflows). Use when bulk-pulling genome assemblies, gene metadata across species, ortholog sets, or BLAST databases; when E-utilities are too slow for genome-scale work; or when automatic checksum verification, parallel download, and clean accession-driven retrieval are required. Encodes the JSON-lines output format, dataformat conversion, --dehydrated for cloud workflows, and when Datasets is/isn't the right tool.

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Pull pre-computed ortholog calls from public databases (OrthoDB, Ensembl Compara, OMA browser, eggNOG, PANTHER, KEGG Orthology, HomoloGene) via their REST APIs. Use when orthologs are already curated upstream, when the question is "what is the X ortholog of Y" rather than "how to infer orthology de novo", when batch-mapping gene IDs across species, or when comparing the resources for consensus calls. Encodes confidence-level semantics, 1:1 vs 1:many vs many:many, HomoloGene deprecation, and when to defect to de novo computation.

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Calculates tumor mutational burden from WES/WGS/panel data with Friends of Cancer Research harmonization equations, per-assay calibration (FDA 10/Mb = 7.8 TSO500 = 8.4 OncomineTML), synonymous/indel/germline filtering, hypermutator tiering, blood TMB, and integration with HLA-LOH and neoantigen quality (Luksza 2017 fitness). Use when assessing ICI eligibility under tumor-specific cutoffs (McGrail 2021), comparing tissue vs bTMB, or auditing TMB-H reporting against ESMO 2024 and FDA pembrolizumab pan-tumor 2020.

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Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples).

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Applies ACMG/AMP 2015 framework with ClinGen SVI specifications, Tavtigian 2018/2020 Bayesian point system, Abou Tayoun 2018 PVS1 decision tree, Pejaver 2022 calibrated PP3/BP4 thresholds for REVEL/BayesDel/AlphaMissense, Brnich 2020 PS3/BS3 OddsPath, Walker 2023 SpliceAI splicing framework, and AMP/ASCO/CAP 2017 tumor tiers. Use when classifying germline variants P / LP / VUS / LB / B, applying VCEP-specific CSpec rules, computing Whiffin BS1, or assigning cancer Tier I-IV per Li 2017.

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Queries ClinVar for variant pathogenicity classifications, ClinGen VCEP curations, and somatic-vs-germline interpretations via REST API, weekly VCF, or bulk XML. Use when determining clinical significance, triangulating conflicting interpretations, or aggregating evidence against the ACMG/AMP framework with ClinGen SVI specifications.

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Calls HLA class I and class II alleles at 2/4/6/8-field resolution from WGS/WES/RNA-seq/long-read data using OptiType, HLA-LA, T1K, Polysolver, HLA-HD, arcasHLA, StarPhase, or HIBAG imputation. Use when typing for HSCT, solid-organ transplant, neoantigen prediction, PGx screening (B*57:01, B*15:02, etc.), or disease-association studies, with reconciliation across tools and IPD-IMGT/HLA version mismatch handling.

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Calls microsatellite instability from WES/WGS/targeted-panel with MSIsensor, MSIsensor-pro, MSIsensor-ct (panel-aware), MSIngs, MANTIS, MSIPanel, MSIDetect, and ngsMSI for FDA pembrolizumab MSI-H pan-tumor / Lynch syndrome / dMMR ICI biomarker. Use when stratifying ICI eligibility (Le 2015), pairing MSI with TMB-H (Sha 2020 / Salem 2018), screening Lynch syndrome (universal IHC + MSI), or distinguishing MSI-H tumors from POLE-exo hypermutator with overlapping signatures.

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Annotate copy number variant segments with overlapping genes, dosage-sensitivity scores, cancer driver databases, population frequencies, and clinical-variant content. Covers bedtools/pybedtools interval intersection, AnnotSV comprehensive annotation and ranking, ClinGen haploinsufficiency/triplosensitivity scoring, gnomAD-SV/DGV frequency filtering, COSMIC Cancer Gene Census, and ClinVar overlap. Use when interpreting which genes a CNV affects, distinguishing the driver gene of a focal event from passengers, filtering against population CNVs, separating whole-gene from partial-gene overlap, or preparing CNVs for clinical classification.

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Queries PharmGKB / CPIC / DPWG for drug-gene interactions; calls CYP2D6/CYP2C9/CYP2C19/DPYD/TPMT/NUDT15/UGT1A1/SLCO1B1 star alleles and phenotype with PharmCAT, Cyrius (CYP2D6 structural variants), Aldy, Stargazer; applies Caudle 2020 activity-score translation. Use when implementing pharmacogenomic-guided prescribing, applying CPIC vs DPWG guidance, screening HLA risk alleles for ICI / antiepileptics / abacavir, or interpreting compound TPMT+NUDT15 thiopurine risk.

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Constructs and validates polygenic risk scores using LDpred2-auto, SBayesRC, MegaPRS, PRS-CS, PROSPER, MUSSEL, BridgePRS, JointPRS, PRSmix, or PGS Catalog Calculator with ancestry-aware reference panels (HapMap3, UKB-LD), Pejaver-style calibration, and PRS-RS reporting standards. Use when computing PRS for cohorts, applying Whiffin-style absolute-risk transformation, assessing cross-ancestry portability (Martin 2017 / Ding 2023 continuous ancestry), or auditing PRS manuscripts against the 22-item PRS-RS reviewer checklist.

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Extracts and assigns COSMIC v3.4 mutational signatures (84 SBS / 11 DBS / 18 ID / 24 CN / 16 SV) from somatic VCFs using SigProfilerSuite, MutationalPatterns, MuSiCal mvNMF, SigNet, or HRDetect. Use when characterizing DNA-damage etiology (BRCA1/2 HRD, MMR-D, POLE, APOBEC3A, UV, tobacco, aflatoxin, 5-FU/SBS17b, platinum, colibactin SBS88), routing PARP inhibitor decisions, or auditing de novo extraction vs refit choice for cohort size.

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Discovers de novo motifs and tests known motif enrichment in ChIP-seq, ATAC-seq, or other peak sequences using HOMER, MEME-ChIP (STREME, CentriMo, TOMTOM, FIMO), monaLisa, and AME. Handles background selection (GC-matched, dinucleotide-shuffled, Markov order-2, peak-flanks), motif databases (JASPAR 2024 CORE PWMs, JASPAR 2026 deep-learning collection, HOCOMOCO v12, HOMER built-in), centrally-enriched motif testing, and differential motif analysis. Use when identifying TF binding motifs in peaks, testing for known TF enrichment, scanning for motif instances, comparing motif content between conditions, or interpreting motifs from deep learning models.

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S3, multipart uploads, CDN integration, and presigned URLs for file storage. Activate on: file upload, S3, presigned URL, multipart upload, CDN, blob storage, image upload, media storage. NOT for: data warehouse storage (use lakehouse-architect), database design (use dimensional-modeler).

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Expert DevOps engineer for CI/CD, IaC, Kubernetes, and deployment automation. Activate on: CI/CD, GitHub Actions, Terraform, Docker, Kubernetes, Helm, ArgoCD, GitOps, deployment pipeline, infrastructure as code, container orchestration. NOT for: application code (use language skills), database schema (use data-pipeline-engineer), API design (use api-architect).

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Large-scale data migrations with validation, rollback, and zero-downtime strategies. Activate on: data migration, database migration, zero-downtime migration, dual-write, backfill, cutover, data validation, schema migration. NOT for: schema evolution in streams (use schema-evolution-manager), API versioning (use api-versioning-backward-compatibility).

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Long-running design anthropologist that builds comprehensive visual databases from 500-1000 real-world examples, extracting color palettes, typography patterns, layout systems, and interaction design across any domain (portfolios, e-commerce, SaaS, adult content, technical showcases). This skill should be used when users need exhaustive design research, pattern recognition across large example sets, or systematic visual analysis for competitive positioning.

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Use when applying Cloudflare D1 migrations, fighting Supabase migration history vs SQL execution, choosing direct psql over CLI, designing idempotent migrations, debugging schema drift between local and remote, or recovering after a half-applied migration. Triggers: supabase migration repair instructions appearing, table missing after "applied" status, "Tenant or user not found" when running psql, --remote vs --local D1 confusion, NOT NULL on a populated column, foreign key constraint failures, drift between staging and prod schemas. NOT for Mongo/document migrations, ORM-managed migrations specifically (Prisma/Drizzle have their own conventions), or pure data backfills.

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Building resilient distributed systems with circuit breakers, retries with full-jitter exponential backoff, retry budgets (per-request 3-attempt + per-client 10% ratio per Google SRE), deadline propagation, and the cascading-failure math (4 layers × 3 retries = 64x amplification). Grounded in Resilience4j, Microsoft Cloud Patterns, AWS Architecture Blog (Marc Brooker), and Google SRE Book. NOT for server-side rate limiting, bulkhead isolation, backpressure protocols, or database-specific retry.

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CQRS pattern, event stores, projections, eventual consistency. Activate on: CQRS, event sourcing, event store, read model, projection, aggregate, domain event, command handler. NOT for: message broker setup (use event-driven-architecture-expert), database optimization (use data-warehouse-optimizer).

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Redis caching patterns, cache-aside, write-through, TTL strategies, and invalidation. Activate on: caching, Redis, cache invalidation, cache-aside, write-through, TTL, CDN cache, stale-while-revalidate. NOT for: CDN/reverse proxy setup (use api-gateway-reverse-proxy-expert), database query optimization (use data-warehouse-optimizer).

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Expert API designer for REST, GraphQL, gRPC architectures. Activate on: API design, REST API, GraphQL schema, gRPC service, OpenAPI, Swagger, API versioning, endpoint design, rate limiting, OAuth flow. NOT for: database schema (use data-pipeline-engineer), frontend consumption (use web-design-expert), deployment (use devops-automator).

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Design multi-tier caching architectures for web applications — cache-aside vs write-through vs write-behind, TTL design, cache invalidation, Redis patterns, CDN configuration, browser caching, and stampede prevention. Use when choosing a caching pattern, designing cache invalidation strategies, implementing Redis caching, configuring Cache-Control headers, or preventing cache stampedes. Activate on "cache invalidation", "cache-aside", "write-through", "TTL", "Redis cache", "CDN caching", "cache stampede", "stale data", "browser cache". NOT for database query caching within an ORM, memoization of pure functions, or CPU-level caching.

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Choosing and operating an HTTP API versioning strategy that doesn't break clients — Stripe's date-based pinned versions, the Deprecation/Sunset header pair (RFC 9745 + RFC 8594), URI vs header vs media-type approaches, and the version-transformer pattern. Grounded in Stripe's published architecture and IETF RFCs. NOT for GraphQL schema evolution, gRPC/Protobuf wire compatibility, database schema migrations, or library/SDK semver.

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