606 件 ・ 関連度順
概要と使いどころ
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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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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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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Detect single-nucleotide crosslink (CL) sites in CLIP-seq data using truncation patterns (iCLIP/eCLIP CITS), crosslink-induced mutations (HITS-CLIP CIMS deletions, PAR-CLIP T-to-C), or HMM/kernel-density methods (PureCLIP, PARalyzer, CTK). Use when single-nucleotide resolution is required for motif registration (mCross), allele-specific binding (BEAPR), variant-effect prediction, or comparing crosslink chemistry across CLIP variants.
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Detect somatic and germline copy number variants from targeted, exome, and whole-genome sequencing with CNVkit, a read-depth caller that combines on-target and off-target (antitarget) coverage. Covers panel-of-normals construction, flat-reference tumor-only calling, hybrid/amplicon/WGS modes, CBS vs HMM segmentation selection, purity-aware integer calling, and reconciliation against GATK and allele-specific callers. Use when calling CNVs from hybrid-capture panels or exomes, deciding whether CNVkit (depth-only) is the right tool versus an allele-specific caller, building a panel of normals, diagnosing flat-reference false positives, or interpreting log2 ratios into copy-number states.
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。
Call copy number variants with the GATK best-practices workflows — the somatic CNV pipeline (CollectReadCounts, DenoiseReadCounts with tangent normalization, ModelSegments, CallCopyRatioSegments) and the germline GATK-gCNV pipeline (DetermineGermlineContigPloidy, GermlineCNVCaller cohort/case mode, PostprocessGermlineCNVCalls). Covers panel-of-normals construction, AnnotateIntervals/FilterIntervals, allelic-count integration, and QS-based filtering. Use when integrating CNV calling into a GATK variant pipeline, calling rare germline CNVs from an exome cohort, deciding between the somatic and germline GATK workflows, or diagnosing why tangent normalization removed a real event or why gCNV output has low precision.
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Tests associations between categorical variables in clinical data using chi-square, Fisher's exact, Boschloo, Cochran-Mantel-Haenszel, and modern McNemar variants with calibrated confidence intervals (Wilson, Newcombe, Miettinen-Nurminen). Use when analyzing categorical outcomes, paired binary endpoints, or testing treatment-outcome independence in confirmatory or exploratory clinical trials.
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Trains and applies base-resolution deep learning models on ChIP-seq / ChIP-nexus / CUT&RUN data. Uses BPNet (Avsec 2021 Nat Genet 53:354; soft motif syntax from ChIP-nexus), chromBPNet (Pampari A et al 2025 Nat Genet; bias-factorized base-resolution profiles), EnFormer (Avsec 2021 Nat Methods 18:1196; 196 kb input, ~100 kb effective receptive field), DeepSEA (Zhou 2015; multi-task CNN), and JASPAR 2026 deep-learning collection (1259 BPNet ChIP models). Performs in silico mutagenesis for variant-effect prediction, DeepLIFT/Grad attribution, and TF-MoDISco motif discovery from attribution scores. Use when predicting variant effects on TF binding, discovering soft motif syntax / cooperativity, integrating ChIP-seq with sequence-only predictions, or applying precomputed JASPAR Deep Learning models to new variants.
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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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Test whether two or more traits share a causal variant at a locus using Bayesian colocalization (coloc.abf, coloc.susie, HyPrColoc, moloc, eCAVIAR, SMR/HEIDI, PWCoCo, SharePro). Use when integrating GWAS with eQTL/sQTL/pQTL/mQTL, distinguishing shared causal variants from LD-driven coincidence, handling allelic heterogeneity, choosing between single-causal vs multi-causal methods, picking PP.H4 thresholds, running sensitivity over p12, or harmonising summary statistics for colocalization.
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Detect allele-specific chromatin accessibility from ATAC-seq using WASP, GATK ASEReadCounter, or RASQUAL. Use when mapping cis-regulatory genetic variants from heterozygous SNPs, separating cis from trans regulation, building chromatin QTL (caQTL) maps, validating GWAS variant function with allelic imbalance, or detecting reference allele mapping bias before downstream analysis.
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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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Add MAUI DevFlow to a .NET MAUI project with agent package references, MauiProgram.cs registration, Blazor WebView support, GTK variants, Central Package Management guidance, and verification commands. USE FOR: first-time DevFlow setup, reviewing what files to edit, choosing DevFlow packages, or continuing after `maui devflow init` installs skills. DO NOT USE FOR: troubleshooting an already-integrated app that cannot connect, iterative app debugging, UI inspection, or generic MAUI build failures (use maui-devflow-debug). INVOKES: maui devflow CLI and dotnet CLI.
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Use when the user asks to generate or edit images via the OpenAI Image API (for example: generate image, edit/inpaint/mask, background removal or replacement, transparent background, product shots, concept art, covers, or batch variants); run the bundled CLI (`scripts/image_gen.py`) and require `OPENAI_API_KEY` for live calls.
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Analyzes PHP code for immutability violations. Checks Value Objects, Events, DTOs for readonly properties, no setters, final classes, and wither patterns. Ensures domain objects maintain invariants.
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MediaClaw is an AI video content factory for teams that need brand video production and repurposing at scale. It turns one source video into localized clips, ad creatives, captioned shorts, voiceover variants, and platform-ready exports for TikTok, Reels, Shorts, Douyin, and Xiaohongshu. AI 视频工厂、品牌视频替换、批量视频生产、短视频自动化。
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Use this skill whenever the user wants to build scroll animations, scroll effects, parallax, scroll-triggered reveals, pinned sections, horizontal scroll, text animations, or any motion tied to scroll position — in vanilla JS, React, or Next.js. Covers GSAP ScrollTrigger (pinning, scrubbing, snapping, timelines, horizontal scroll, ScrollSmoother, matchMedia) and Framer Motion / Motion v12 (useScroll, useTransform, useSpring, whileInView, variants). Use this skill even if the user just says "animate on scroll", "fade in as I scroll", "make it scroll like Apple", "parallax effect", "sticky section", "scroll progress bar", or "entrance animation". Also triggers for Copilot prompt patterns for GSAP or Framer Motion code generation. Pairs with the premium-frontend-ui skill for creative philosophy and design-level polish.
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Scaffold course exercise directories with numbered sections, exercise variants, required readmes, and repo-specific validation. Use when creating exercise stubs, adding a course section, or safely renaming exercises.
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One-shot brand-faithful presales redesign of a website page. The user provides only the URL; everything else — extraction, tension identification, three differentiated variants (one fully cinematic), validation — is derived from the captured brand surface. Use when the user asks to "uplift", "refresh", or "redesign a site for presales" without wanting to coordinate the extract / direct / prototype chain themselves.
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。
Search for existing content pages containing a specific block in AEM Edge Delivery Services. Reports URLs with occurrences and variants to help identify test content during development.
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。
Generates clean React/Vue component skeletons with TypeScript types, prop variants, styling hooks, test files, Storybook stories, and usage documentation. Use when users request "create a component", "scaffold component", "new React component", or "generate component boilerplate".
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。
HTTP request smuggling checklist: CL.TE, TE.CL, TE.TE variants, detection with timing and differential responses, WAF bypass, cache poisoning, credential hijacking, and request smuggling via HTTP/2. Use when testing reverse proxy/load balancer configurations.
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Hunting skill for csrf vulnerabilities. Built from 15 public bug bounty reports including modern variants — SameSite=Lax sibling-subdomain bypass (Argo CD CVE-2024-22424), GraphQL mutations-via-GET (GitLab $3,370), framework-wide CSRF middleware disabled (Stripe Dashboard $5,000), path-traversal CSRF-token bypass (GitHub Enterprise CVE-2022-23732 $10k), Origin-omission bypass (TikTok $2,500), OAuth-state null-byte (Streamlabs), WebSocket CSRF / CSWSH (Coda), default-SameSite email-change → ATO (YoYo Games $400), social-account-link CSRF (HackerOne), JSON-CSRF via text/plain on email-change (TikTok $500). Use when hunting modern CSRF — heavy emphasis on chain-to-ATO patterns.
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Complete reference for 26 web2 bug classes with root causes, detection patterns, bypass tables, exploit techniques, and real paid examples. Covers IDOR, auth bypass, XSS, SSRF (11 IP bypass techniques), SQLi, business logic, race conditions, OAuth/OIDC, file upload (10 bypass techniques), GraphQL, LLM/AI (ASI01-ASI10 agentic framework), API misconfig (mass assignment, JWT attacks, prototype pollution, CORS), ATO taxonomy (9 paths), SSTI (Jinja2/Twig/Freemarker/ERB/Spring), subdomain takeover, cloud/infra misconfigs, HTTP smuggling (CL.TE/TE.CL/H2.CL), cache poisoning, MFA bypass (7 patterns), SAML attacks (XSW/comment injection/signature stripping), error disclosure / debug endpoints (stack trace regex per framework, chain templates), CSS injection (attribute-selector exfiltration, opacity clickjacking, @import). LFI / file inclusion -> RCE (php://filter source disclosure, iconv filter-chain RCE with no upload, log/environ poisoning, .user.ini/.htaccess auto_prepend, data:// + expect:// wrappers, session inclusion, traversal bypass table). Insecure deserialization (PHP __wakeup bypass / phar:// POP chains, Java ysoserial CommonsCollections gadgets + magic bytes, Python pickle __reduce__ + signed-cookie forgery, Node node-serialize). Dependency confusion / supply chain (internal package-name discovery, unclaimed-name confirmation, callback-only PoC, npm/pip/Maven/RubyGems variants). Use when hunting a specific vuln class or studying what makes bugs pay.
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。