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“annotation”的搜索结果

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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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peacezha/HPClaw32026年10月11日 更新

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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peacezha/HPClaw32026年10月11日 更新

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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peacezha/HPClaw32026年10月11日 更新

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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peacezha/HPClaw32026年10月11日 更新

Use this skill when the user asks about Electronic Logging Device (ELD) compliance under 49 CFR 395.20-38 — ELD mandate, AOBRD vs ELD transition, ELD exemptions, ELD malfunctions, 8-day paper backup, ELD certification on FMCSA registered list, data file integrity, edits + annotations, driver portability, and how to handle ELD failures at roadside. Cite 49 CFR 395.20-395.38.

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x3allamerican/skills32026年5月17日 更新

INVOKE THIS SKILL when optimizing, improving, or debugging LLM prompts using production trace data, evaluations, and annotations. Covers extracting prompts from spans, gathering performance signal, and running a data-driven optimization loop using the ax CLI.

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jcasnellie69/homelab-config22026年10月16日 更新

Generate deep links to the Arize UI. Use when the user wants a clickable URL to open a specific trace, span, session, dataset, labeling queue, evaluator, or annotation config.

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jcasnellie69/homelab-config22026年10月16日 更新

Validates models and IOptions. DataAnnotations, IValidatableObject, IValidateOptions<T>.

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rudironsoni/Synaxis22026年3月17日 更新

Trims .NET 8+ apps and libraries. Annotations, ILLink descriptors, IL2xxx warnings, IsTrimmable.

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rudironsoni/Synaxis22026年3月17日 更新

Enables nullable reference types. Annotation strategies, migration, common agent mistakes.

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rudironsoni/Synaxis22026年3月17日 更新

[BETA] Implement custom AEM Workflow Java components on AEM as a Cloud Service. This skill is in beta. Verify all outputs before applying them to production projects. Use when writing WorkflowProcess steps, ParticipantStepChooser implementations, registering services via OSGi DS R6 annotations, reading step arguments from MetaDataMap, accessing JCR payload via WorkflowSession adapter, reading and writing workflow metadata and variables, and handling errors with WorkflowException for retry behavior.

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aemgdc/aemdev22026年10月20日 更新

Set up GitHub Actions CI pipeline with test, lint, type-check, and build jobs for a Node.js/TypeScript project. Includes output grouping, error annotations, and job summary patterns.

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krafteq/infraglue22026年7月8日 更新