「tools」の検索結果

Generate alignment statistics using samtools flagstat, stats, depth, coverage, and mosdepth. Use when assessing alignment quality, calculating coverage, or generating QC reports.

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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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Filter alignments by flags, mapping quality, and regions using samtools view and pysam. Use when extracting specific reads, removing low-quality alignments, or subsetting to target regions.

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Quantifies alternative splicing as PSI (percent spliced in) from RNA-seq using rMATS-turbo (BAM-based event), SUPPA2 (TPM-based event), MAJIQ V3 (LSV-based Bayesian), leafcutter (annotation-free intron clusters), VAST-TOOLS (cross-species with microexon support), Shiba (junction-imbalance-corrected, 2025 SOTA at low coverage), or IRFinder-S (intron retention coverage-aware). Distinguishes the five canonical event classes (SE, A5SS, A3SS, MXE, RI), special classes (microexons, exitrons, AFE/ALE), intron retention subtypes (canonical RI vs detained introns), and applies effective-length normalization. Use when measuring splice-site usage or isoform inclusion ratios from short-read RNA-seq.

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Generate pileup data for variant calling using samtools mpileup and pysam. Use when preparing data for variant calling, analyzing per-position read data, or calculating allele frequencies.

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Detects differential alternative splicing between conditions using rMATS-turbo (binomial LRT on junction counts), leafcutter (Dirichlet-multinomial GLM on intron clusters), MAJIQ V3 deltapsi/HET (Bayesian posterior on LSVs), SUPPA2 (empirical-null on TPM-derived PSI), or Shiba (junction-imbalance-corrected, 2025 SOTA at low coverage). Reports FDR-corrected significance and delta PSI effect sizes. Tools differ in statistical model, annotation dependence, calibration regime, and replicate-count requirements. Use when comparing splicing patterns between treatment groups, tissues, or disease states.

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Analyzes differential transcript usage (DTU) and isoform switches with functional consequence prediction (NMD via 50nt rule, ORF disruption, protein domain loss/gain, signal peptide changes, IDR alterations, coding-potential shifts). Tools include IsoformSwitchAnalyzeR v2 (auto-selects satuRn for >5 reps else DEXSeq), the manual DRIMSeq -> DEXSeq/satuRn -> stageR DTU pipeline, and fishpond/swish for inferential-uncertainty-aware DTE. Distinguishes DTU from DGE and DTE; integrates external annotators (CPC2, Pfam, SignalP, IUPred2A or DeepTMHMM). Use when investigating how splicing differences alter protein function or trigger NMD-mediated degradation.

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Analyzes alternative splicing at single-cell resolution. The first decision is library chemistry — 10X 3' is fundamentally limited (RT primes from poly-A, R2 falls in 3' UTR, <0.1 junction read per cell per AS event). Plate-based full-length methods (Smart-seq3, FLASH-seq, VASA-seq, STORM-seq) and single-cell long-read (MAS-Iso-seq, scISOr-Seq2) are the chemistries that give per-cell isoform structure. Tools include MARVEL (R, Smart-seq integrated), BRIE2 (Bayesian PSI with regulatory features and ELBO_gain test), scQuint (junction-cluster, plate-based; not for 10X), SpliZ (annotation-free Z-score), Psix (graph-smoothness regulated AS), and Sierra (alternative polyadenylation, often confused with AS). Use when analyzing isoform usage in scRNA-seq, identifying cell-type-specific splicing, or determining whether scRNA-seq chemistry supports splicing analysis at all.

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Audit required bioinformatics command-line tools against Lmod or Environment Modules on Linux HPC clusters, resolve executable and version requirements, and reproducibly deploy missing software through a site-approved EasyBuild, Spack, Bioconda/micromamba, Apptainer, binary, or source-build workflow. Use when Codex must inspect module availability, diagnose a missing or wrong-version bioinformatics tool, install scientific software on Slurm/PBS clusters, publish or validate modulefiles, or produce an auditable and rollback-ready cluster software deployment.

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Trim PCR primers from aligned reads in amplicon-panel BAMs using samtools ampliconclip. Use when processing SARS-CoV-2 ARTIC, hereditary cancer panels, ctDNA hot-spot panels, or any amplicon assay where primer-derived bases would falsely confirm reference at primer footprints.

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Create and use BAI/CSI indices for BAM/CRAM files using samtools and pysam. Use when enabling random access to alignment files or fetching specific genomic regions.

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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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Sort alignment files by coordinate or read name using samtools and pysam. Use when preparing BAM files for indexing, variant calling, or paired-end analysis.

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Sync the current machine's configuration into the dotfiles repo and update the React showcase page. Use this skill whenever the user says "sync dotfiles", "update dotfiles", "sync config", "actualizar dotfiles", "sincronizar config", "update the repo with my current setup", or anything about pulling their current machine state into the dotfiles repo. Also trigger when the user mentions updating the toolkit page, adding new tools to the page, syncing Claude Code or Codex config (AGENTS.md, codex agents/skills/hooks), or keeping the dotfiles repo in sync with what's actually installed.

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docs (editable docs people share and comment on; the default for any document, named as a doc or not: a document, report, proposal, resume, cover letter, letter, contract, policy, form, template, worksheet, essay, handbook, guide, how-to, cheat sheet, SOP or other writing to keep, share, collaborate on, send, submit, print or sign; a doc exports to Word, PDF, Markdown or Google Docs, so needing a file to send, attach, upload, submit or print is no reason to pick Word, and a file nobody asked for is a doc, not Word; a plan, comparison, summary or notes asked in chat stays in chat; a pasted claude.ai artifact link may be a doc: check with docs tools first; Word or another file format named, tracked changes wanted, or a .docx to change or use as a template → that format's skill): making one → if no docs-connector instructions are in context, call its `guide` (topic.instructions) first; then create the doc (headings only, no body) before any search, file read or plan, even with files attached.

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Use formula-backed WorkPaper JSON and MCP tools for agent spreadsheet tasks without driving Excel or a browser UI.

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Automate Bitbucket repositories, pull requests, branches, issues, and workspace management via Rube MCP (Composio). Always search tools first for current schemas.

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Automate Basecamp project management, to-dos, messages, people, and to-do list organization via Rube MCP (Composio). Always search tools first for current schemas.

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Automate BambooHR tasks via Rube MCP (Composio): employees, time-off, benefits, dependents, employee updates. Always search tools first for current schemas.

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Biopython is a comprehensive set of freely available Python tools for biological computation. It provides functionality for sequence manipulation, file I/O, database access, structural bioinformatics, phylogenetics, and many other bioinformatics tasks.

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Azure Identity SDK for Rust authentication. Use for DeveloperToolsCredential, ManagedIdentityCredential, ClientSecretCredential, and token-based authentication.

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AI-powered E2E web testing — eyes and hands for AI coding tools. Declarative YAML scenarios, Playwright execution, visual matching (OpenCV + OCR), platform auto-detection (Flutter/React/Vue), learning DB. Install: npx skills add ksgisang/awt-skill --skill awt -g

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Azure AI Agents Persistent SDK for .NET. Low-level SDK for creating and managing AI agents with threads, messages, runs, and tools.

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Automate Asana tasks via Rube MCP (Composio): tasks, projects, sections, teams, workspaces. Always search tools first for current schemas.

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。