「eu」の検索結果

Maps GWAS-implicated loci to candidate effector (causal) genes by integrating variant-to-gene (V2G) features via Open Targets L2G (Mountjoy 2021), MAGMA gene-based association (de Leeuw 2015), FUMA SNP2GENE, cS2G combined SNP-to-gene scores (Gazal 2022), Polygenic Priority Scores (PoPS, Weeks 2023), FLAMES, INQUISIT, DEPICT, and enhancer-gene predictors (ABC, ENCODE-rE2G). Use when narrowing a GWAS lead locus to a candidate causal gene, picking between proximity, eQTL-based, and similarity-based prioritizers, integrating multi-evidence streams (fine-mapping, colocalization, ABC enhancer-gene, distance, chromatin), reconciling discordant L2G vs PoPS calls, prioritizing tissue-specific eQTL evidence, or triangulating across at least three independent lines of evidence for a publication-grade effector-gene nomination.

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Predict enhancer-gene regulatory connections from ATAC-seq using ABC, ENCODE-rE2G, HiChIP, or Cicero. Use when linking distal enhancers to target genes, choosing between contact-aware (ABC, ENCODE-rE2G), accessibility-only (Cicero), and orthogonal (HiChIP H3K27ac, EpiMap) approaches, validating predictions against CRISPRi-FlowFISH gold-standard, or building cell-type-specific regulatory maps for fine-mapping or therapeutic target discovery.

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Process and analyze single-cell ATAC-seq data with Signac, ArchR, SnapATAC2, or Cell Ranger ATAC. Use when handling 10X scATAC or 10X Multiome (paired RNA+ATAC) data, performing per-cell QC, choosing between ArchR/Signac/SnapATAC2 ecosystems, building per-cluster consensus peaksets, integrating with paired scRNA-seq, doublet detection (AMULET vs ArchR vs scDblFinder), or running pseudobulk differential accessibility per cluster.

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Call accessible chromatin regions from ATAC-seq BAM files using MACS3, MACS2, Genrich, or HMMRATAC. Use when identifying open chromatin from aligned ATAC-seq, choosing between point-source vs HMM peak callers, applying ENCODE-style pseudoreplicate IDR, removing blacklist regions, or fixing 501bp consensus peaks for downstream differential analysis.

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Sequence-based deep learning for ATAC-seq using chromBPNet, BPNet, scBasset, or EnFormer. Use when correcting Tn5 bias with neural networks beyond k-mer models, predicting per-base accessibility profiles, scoring in silico variant effects at GWAS or rare-variant SNPs, discovering motifs via DeepLIFT/TF-MoDISco from a trained model, or generating cell-type-specific accessibility predictions for unobserved cell states.

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Predicts whether a DNA variant alters mRNA splicing using sequence-based deep-learning tools — SpliceAI (10kb context dilated CNN, clinical default), Pangolin (multi-tissue), MMSplice (modular per-region CNN with calibrated ΔPSI), SpliceTransformer/TrASPr (tissue-aware transformers), SpliceVault (empirical 300K-RNA lookup of likely mis-splicing outcomes), CADD-Splice (composite score). Applies the ClinGen SVI 2023 framework for ACMG/AMP variant interpretation (PVS1, PP3, BP4 evidence codes), HGVS splicing nomenclature (c.123+1G>A, c.123-3T>G, r.spl?), extended-window scoring for deep-intronic pseudoexons, tissue-specific predictions, branchpoint variant detection (BPHunter, LaBranchoR), and splice-switching ASO design. Use when interpreting splice impact of clinical variants, prioritizing VUS, identifying deep-intronic pathogenic variants, or designing ASOs.

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

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A hard-edged writing style contract for timeless, forceful English prose without modern AI tics. Use when users ask for prose or rewrites that must be clean, exact, concrete, and free of AI cadence, filler, or therapeutic tone.

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Enterprise messaging with queues, topics, and subscriptions.

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This skill should be used when the user asks to "model agent mental states", "implement BDI architecture", "create belief-desire-intention models", "transform RDF to beliefs", "build cognitive agent", or mentions BDI ontology, mental state modeling, rational agency, or neuro-symbolic AI integration.

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

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Auri: assistente de voz inteligente (Alexa + Claude claude-opus-4-20250805). Visao do produto, persona Vitoria Neural, stack AWS, modelo Free/Pro/Business/Enterprise, roadmap 4 fases, GTM, north star WAC e analise competitiva.

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Optimal ViewModel and Wizard creation patterns for Avalonia using Zafiro and ReactiveUI.

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Actorization converts existing software into reusable serverless applications compatible with the Apify platform. Actors are programs packaged as Docker images that accept well-defined JSON input, perform an action, and optionally produce structured JSON output.

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The AI native file format. EXIF for AI — stamps every file with trust scores, source provenance, and compliance metadata. Embeds into 20+ formats (DOCX, PDF, images, code). EU AI Act, SOX, HIPAA auditing.

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Build natural-language crypto/DeFi agents and EVM MCP plugins (Claude Code, Cursor, Codex, Gemini). Aomi turns prompts into wallet-signed txs on Ethereum, Base, Arbitrum, Optimism, Polygon, Linea — non-custodial, fork-simulated. 40+ apps: Uniswap, Aave, Lido, Morpho, GMX, Hyperliquid, Polymarket.

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Earnings-season triage across ALL active theses (not just Live Portfolio holdings) — every earnings call reported inside the window gets a Quartr event summary, a Conviction-Trigger/Outstanding-Questions cross-reference, and a coverage check against existing Research notes, producing a ranked deep-read queue for /transcript. Use when user says "earnings sweep", "who reported", "triage earnings", "catch up on earnings season", or after any earnings-heavy stretch. Default window 14 days; `/earnings-sweep 90` covers a full season.

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1950s-1990s nostalgia with skeuomorphic touches, grainy textures, retro color palettes, and pixel-style typography.

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Retro Zine — 米色纸 + 绿色 accent + Bebas Neue + Caveat：HTML 形式的 riso 印刷 zine。任何应该感觉印刷 / lo-fi / 手作的 deck：独立 zine 与刊物 / 音乐艺术品牌 / 创作者作品集 / 小批量手作发布 / 社区 deck。

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Real-world mimicry with textured surfaces, 3D effects, and familiar physical metaphors for intuitive digital interfaces.

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Straightforward, no-frills design with clean typography, neutral colors, and intuitive layouts that stay out of the way.

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Soft, extruded UI elements with inner and outer shadows on monochromatic surfaces for a tactile, embedded look.

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Generate a single-file industrial-archive product landing page (Nordic museum aesthetic, hash-routed detail pages). Takes a natural-language description of one or more "exhibit-style" products (objects, tools, hardware, watches, kitchenware, lighting, audio, instruments, anything with a designed/forged/restrained quality); outputs ONE working .html file. Visitors see a black-framed cover that flips between exhibits, sidebar index, side meta column (material/origin/year/dimension), and click any exhibit → full detail page (giant italic title, spec table, hero image, lead + 3 prose paragraphs, gallery, prev/next). Runs in BOTH Claude Code (writes to ~/Desktop) and GLM / online chat (outputs HTML inline). Trigger: "做个工业风产品落地页", "做克制之物风格的展品页", "industrial-archive-gen ...", or when user drags this skill folder into chat asking for a product page in the Nordic-industrial archive style.

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