「ics」の検索結果

Resolves GWAS associations to candidate causal variants and credible sets via SuSiE, susie_rss, FINEMAP, CAVIAR, DAP-G, PAINTOR, PolyFun, SuSiEx, MultiSuSiE, and FOCUS. Use when narrowing a GWAS lead SNP to a 95 percent credible set, choosing between in-sample and reference LD, calibrating non-sparse loci with SuSiE-inf or FINEMAP-inf, integrating functional priors via PolyFun, fine-mapping across ancestries with SuSiEx, diagnosing LD mismatch via estimate_s_rss and kriging_rss, handling HLA or long-range LD, or feeding credible sets into coloc.susie for colocalization.

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Designs adaptive clinical trials including group-sequential (O'Brien-Fleming, Pocock, Lan-DeMets spending), sample-size re-estimation (blinded Friede-Kieser, unblinded Cui-Hung-Wang, Mehta-Pocock promising zone), seamless Phase 2/3 with treatment-arm selection, population enrichment, and response-adaptive randomisation. Covers FDA 2019 Final Adaptive Designs Guidance, FDA 2022 Master Protocols, and ICH E20 Step 2b/3 draft (June 2025, NOT final). Use when planning interim analyses, sample-size re-estimation, or master/platform-trial designs.

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Decompose total effects into direct and indirect paths through mediators using mediation, CMAverse 4-way, HIMA/HIMA2 high-dimensional, BAMA, two-step / MVMR mediation, or double-ML medDML. Use when testing whether a molecular phenotype (expression, methylation, protein) mediates a treatment-outcome relationship, decomposing exposure-mediator interaction via VanderWeele 4-way, screening high-dimensional EWAS mediators, or running MR-based mediation when sequential ignorability is implausible.

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Detect and adjust for horizontal pleiotropy in two-sample Mendelian randomization by distinguishing uncorrelated (UHP) from correlated (CHP) pleiotropy and choosing among Egger, MR-PRESSO, MR-RAPS, CAUSE, LHC-MR, LCV, MR-Clust, MR-Mix, and contamination-mixture methods. Use when validating an MR causal claim, running the STROBE-MR sensitivity battery, suspecting a shared heritable confounder, working under weak-instrument or polygenic-exposure regimes, or reconciling discordant estimates across robust methods.

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Use when users need bioinformatics analysis on the NCPGR cluster, especially when converting analysis requests into local software choices, resource plans, and LSF job scripts.

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Perform multiple sequence alignment using MAFFT, MUSCLE5, ClustalOmega, or T-Coffee. Guides tool and algorithm selection based on dataset size, sequence divergence, and downstream application. Use when aligning three or more homologous sequences for phylogenetics, conservation analysis, or evolutionary studies.

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Read, write, and convert multiple sequence alignment files using Biopython Bio.AlignIO. Supports Clustal, PHYLIP, Stockholm, FASTA, Nexus, and other alignment formats for phylogenetics and conservation analysis. Use when reading, writing, or converting alignment file formats.

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Validate alignment quality with insert size distribution, proper pairing rates, GC bias, strand balance, and other post-alignment metrics. Use when verifying alignment data quality before variant calling or quantification.

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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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View, convert, and understand SAM/BAM/CRAM alignment files using samtools and pysam. Use when inspecting alignments, converting between formats, or understanding alignment file structure.

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Advise on defensive security for industrial control systems you operate. Safety first. No process-disruption guidance.

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Audit web pages for performance optimization following PageSpeed Insights guidelines. Use when analyzing page performance, optimizing web applications, reviewing performance metrics, implementing Core Web Vitals improvements, or when the user mentions page speed, performance optimization, Lighthouse scores, or Core Web Vitals.

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Provides patterns for implementing Spring Boot caching: configures Redis/Caffeine/EhCache providers with TTL and eviction policies, applies @Cacheable/@CacheEvict/@CachePut annotations, validates cache hit/miss behavior, and exposes metrics via Actuator. Use when adding caching to Spring Boot services, configuring cache expiration, evicting stale data, or diagnosing cache misses.

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Java coding standards for Spring Boot services: naming, immutability, Optional usage, streams, exceptions, generics, and project layout.

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Verifies and injects Google Tag Manager (GTM), GA4 event triggers, and optimized meta tags.

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Use when adding monitoring, metrics, logging, or tracing to Spring AI or LLM integration code. Covers token tracking, latency measurement, cost estimation, and prompt/response logging. Use when user mentions AI monitoring, token costs, or LLM observability.

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Pushes interfaces past conventional limits with technically ambitious implementations — shaders, spring physics, scroll-driven reveals, 60fps animations. Use when the user wants to wow, impress, go all-out, or make something that feels extraordinary.

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Create distinctive, production-grade frontend interfaces with high design quality. Generates creative, polished code that avoids generic AI aesthetics. Use when the user asks to build web components, pages, artifacts, posters, or applications, or when any design skill requires project context.

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MiniMax H3用の文字・図形・商品を主役にしたモーショングラフィックスプロンプトを作成・監査する。生成実行は別スキルで扱う。

Guide for building and refactoring a FastAPI + Prefect + PostgreSQL/pgvector analytics pipeline that extracts insights from chat data using LLM classification, embeddings, UMAP/HDBSCAN clustering, and narrative generation. Use this skill whenever working on this project's codebase — including adding features, refactoring, debugging, creating new endpoints, modifying pipeline stages, or reviewing architecture decisions. Also trigger when the user asks about project structure, stack decisions, async migration, or best practices for this specific system.

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Azure Service Bus SDK for Python messaging. Use for queues, topics, subscriptions, and enterprise messaging patterns.

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Azure Service Bus SDK for .NET. Enterprise messaging with queues, topics, subscriptions, and sessions.

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Azure Data Lake Storage Gen2 SDK for Python. Use for hierarchical file systems, big data analytics, and file/directory operations.

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