「diagnostic」の検索結果

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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Batch effect correction for CRISPR screens covering ComBat empirical-Bayes, RUV, SVA, control-sgRNA normalization, and the model-based alternative of including batch as a covariate in MAGeCK MLE or Chronos. Covers screen-specific batch sources (passage cohort, library lot, infection day, sequencing run, Cas9 lot, FBS lot), PCA + variance-decomposition diagnostic to decide if correction is needed, when correction harms biology by over-correcting condition into batch, limma removeBatchEffect for visualization-only correction, and relationship to multi-condition design matrices. Use when combining screens for joint analysis, when passage cohort confounds biology, when DepMap-style panels need Chronos with batch covariates, when picking ComBat vs RUV, or when correction harms biology and should be replaced with explicit covariate modeling.

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Analyzes base-editing screens for variant function. Covers library design (Hanna 2021 ClinVar-scale CBE screen benchmarked on BRCA1/2, Cuella-Martin 2021 DDR saturation), CBE vs ABE chemistry choice (BE3/BE4 vs ABE7.10/ABE8.20/ABE8e), editing-window math (positions 4-8 from PAM-distal end; 4-7 for ABE7.10), bystander-edit quantification and the variant-call ambiguity it creates, sgRNA-efficiency filtering before hit calling, indel byproduct interpretation, the substitution-vs-indel diagnostic, variant annotation against ClinVar / COSMIC, and the Broad be-validation-pipeline. Use when designing a BE variant screen, choosing CBE vs ABE for a specific edit, interpreting bystander-confounded hits, distinguishing functional signal from indel artifact, integrating CRISPResso2 output with screen scoring, or deciding BE vs PE for SNV installation.

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Performs time-to-event analysis for clinical trials including Cox proportional hazards regression with PH diagnostics, restricted mean survival time (RMST) under non-PH, competing risks via Fine-Gray vs cause-specific Cox, weighted log-rank and MaxCombo for non-proportional hazards, recurrent events (Andersen-Gill, PWP, WLW), and interval-censored data. Use when analyzing time-to-event endpoints (OS, PFS, DOR, TTR, TTNT) in oncology or other clinical trials.

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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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Assesses RNA-seq data quality specifically for alternative splicing analysis. QC layers include experimental design audit (library prep, read length, depth, replicates), STAR 2-pass cohort-style alignment, junction saturation curves and discovery plateau detection, novel-vs-known junction ratio diagnostics, junction-overhang distribution, splice-site strength scoring (MaxEntScan intrinsic + SpliceAI context-aware), strandedness verification, GENCODE basic vs comprehensive choice, and rRNA contamination screening. Splicing analysis is more demanding than DGE on read length, depth, library prep, alignment strategy, and annotation choice — failures silently bias PSI estimates and inflate novel-junction false positives. Use when evaluating data suitability for splicing analysis, troubleshooting low event detection, or designing sequencing experiments where AS is a primary endpoint.

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Use when implementing or debugging ANY network connection, API call, or socket in an Apple app. Covers URLSession, Network.framework, NetworkConnection, connection diagnostics.

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Use when you need Apple's own documentation or a Swift compiler diagnostic explained rather than recalled.

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Use when ANY iOS or macOS build fails, a crash log needs diagnosing, a test run crashes, Xcode misbehaves, or an environment issue blocks work before code is the suspect. Covers build failures, dependency conflicts, simulator diagnostics.

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Resolve Swift concurrency compiler errors, adopt approachable concurrency (SE-0466), and write data-race-safe async code. Use when fixing Sendable conformance errors, actor isolation warnings, or strict concurrency diagnostics; when adopting default MainActor isolation, @concurrent, nonisolated(nonsending), or Task.immediate; when designing actor-based architectures, structured concurrency with TaskGroup, or background work offloading; or when migrating from @preconcurrency to full Swift 6 strict concurrency.

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Use when collecting or analyzing production iOS or iPadOS performance telemetry with MetricKit, including iOS 27 MetricManager async metric or diagnostic reports, hang or crash triage, custom signposts, extended launch measurement, durable export, or iOS 26 MXMetricManager compatibility.

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Manages MongoDB Atlas Stream Processing (ASP) workflows. Handles workspace provisioning, data source/sink connections, processor lifecycle operations, debugging diagnostics, and tier sizing. Supports Kafka, Atlas clusters, S3, HTTPS, and Lambda integrations for streaming data workloads and event processing. NOT for general MongoDB queries or Atlas cluster management. Requires MongoDB MCP Server with Atlas API credentials.

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Diagnose MATLAB errors and unexpected behavior. Breakpoints, workspace inspection, try-catch diagnostics, and common error patterns. Use when debugging functions, tracing errors, inspecting variables, or diagnosing runtime failures.

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Run MATLAB test suites and analyze results, including test filtering, parallel execution, result diagnostics, code coverage collection, gap analysis, and CI/CD with buildtool. Use when running tests, filtering test suites, analyzing test failures, checking, collecting, or analyzing coverage, justifying uncovered code, or configuring CI pipelines. Do NOT use for writing, generating, or structuring tests. Do NOT use for Simulink coverage or Simulink testing workflows.

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Configure Azure Monitor and Activity Log for auditing. Set up diagnostic settings and log analytics. Use when auditing Azure activity.

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Crabbox/Testbox remote proof: portable provider routing, untrusted isolation, Linux/macOS/Windows/WSL2, live E2E, diagnostics, cleanup.

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Diagnose Claude Code hook installation, delivery, and ingestion issues. Checks hook configuration, connectivity, event flow, and identifies common problems. Use when events are not appearing in the dashboard.

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Plan the smallest set of diagnostic, comparison, paper, and appendix figures or tables needed to support verified mathematical-modeling decisions and claims.

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Build or review source-backed descriptive, diagnostic, predictive, and prescriptive analysis for consequential decisions. Use when an agent must profile and safely prepare uploaded data, turn a real dataset or research question into a reproducible study, investigate drivers without overstating causality, validate a model, compare feasible actions under dependent uncertainty and tail risk, trace every parameter to evidence and approval, or produce an answer-first analytical report across health, business, finance, policy, engineering, operations, behavioral science, AI, or planning.

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Use when Process Intelligence needs building, explicit cloud/account/environment configuration, sign-in, connection diagnostics, or recovery from an authentication error.

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Use when the user has finished building a mobile app, started Metro with `npm run dev`, and wants the running app monitored for runtime errors AND silent failures (empty lists, blank screens, swallowed network errors) and fixed autonomously. Accepts a free-text symptom (e.g., `/debug-app "todos not appearing on home screen"`) to drive persisted-log diagnostics — injects temporary console.log statements at data-path boundaries, reads the sanitized `.powernative/metro-logs/` log, and cleans up logs after the root cause is fixed. Supports port/platform filtering, configurable clean-cycle and timeout limits, and watch-only `--no-fix` mode. Otherwise polls with a durable byte cursor, fixes inline or routes appropriately, verifies each fix from new output, and exits after the configured clean checks (default 3). Foreground loop — blocks the conversation while running. Run only after the app is loaded.

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Use when a Scenario user wants to report a bug or request a change, on the public tracker at github.com/scenario-labs/skills or by email to support@scenario.com: turning a failed generation, MCP tool error, or unclear skill into a reproducible report, collecting trace ids with diagnostics_run, stripping keys, signed asset URLs, and personal data, asking before sharing a team or project id, or building a prefilled issue URL. Keywords: file an issue, feature request, feedback.

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Respond to Kubernetes incidents with runbooks and diagnostics. Use for outages, pod failures, node issues, network problems, and emergency response.

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kubectl-mcp-server CLI commands for tool discovery, direct invocation, and diagnostics. Use when exploring available tools, calling tools from command line, or checking server health.

日本語の概要は準備中です。原文の説明を表示しています。