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概要と使いどころ
Generate consensus FASTA sequences by applying VCF variants onto a reference with bcftools consensus, or build viral/amplicon consensus with iVar. Use when reconstructing a sample-specific reference or haplotype, deciding -H haplotype vs IUPAC vs all-ALT projection, masking no-coverage sites so a consensus does not manufacture false reference calls, or setting iVar min-depth/min-frequency policy for surveillance genomes.
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Visualize copy number profiles, segments, allele-specific tracks, and cohort patterns from CNVkit, GATK, ASCAT, FACETS, Sequenza, and other callers. Covers genome-wide and per-chromosome log2 scatter plots, B-allele-frequency/minor-allele-fraction tracks, ideograms, cohort heatmaps, circos views, and caller-native plots. Use when creating publication CNV figures, choosing which plot answers a given question, diagnosing a wrong diploid baseline visually, displaying loss of heterozygosity, or deciding what depth-only plots cannot reveal.
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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 2024 bioRxiv; 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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Visualizes ChIP-seq data using deepTools (computeMatrix, plotHeatmap, plotProfile, bamCoverage, bamCompare), pyGenomeTracks (modern INI-driven track plots), Gviz (R browser-style), EnrichedHeatmap (ComplexHeatmap-based), ChIPseeker tag heatmaps, and IGV batch screenshots. Handles bigWig normalization choices (CPM, BPM, RPGC, spike-in scaled), bamCompare operations (log2 ratio, subtract) with SES scaling, k-means clustering of heatmaps for biological subgrouping, and spike-in-scaled tracks for global-shift experiments. Use when generating publication-quality ChIP-seq signal heatmaps, profile plots, genome-browser tracks, or comparing samples visually.
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Estimates bivariate genetic correlation (rg) between traits from GWAS summary statistics or individual-level genotypes using cross-trait LDSC, HDL, LAVA, rho-HESS, GREML-bivariate, Popcorn, and HDL-L. Use when quantifying shared genetic architecture between two traits, screening MR validity before causal inference, distinguishing global from locus-level rg, estimating trans-ancestry rg, separating partial from full causation via LCV gcp, or producing a STROBE-MR-compliant cross-trait sensitivity battery. Cross-trait LDSC intercept absorbs sample overlap and is NOT a bias; HDL is biased under sample overlap above ~5%. High rg between exposure and outcome motivates CHP-aware MR sensitivity (CAUSE, LHC-MR).
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Analyzes CUT&RUN (Skene Henikoff 2017) and CUT&Tag (Kaya-Okur 2019) chromatin profiling data. Handles SEACR vs MACS2 peak calling (with the btaf375 2025 benchmark guidance), pA-MNase vs pA-Tn5 vs pAG-Tn5 chimera differences, E. coli spike-in carryover normalization, IgG-only control logic (no input), characteristic fragment-size signatures (25-75 bp for CUT&Tag), and lower depth requirements (5M reads typical vs 25M for ChIP). Use when calling peaks from CUT&RUN/CUT&Tag, scaling by E. coli spike-in carryover, choosing SEACR norm mode, or comparing CUT&RUN/Tag results to traditional ChIP.
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Calls ChIP-seq peaks with MACS3, MACS2, HOMER, or SPP across narrow (TF) and broad (histone) modes. Handles input control matching, fragment-size modeling vs --nomodel, effective genome size, ENCODE-style IDR vs naive overlap, hyper-ChIPable artifacts, and aligner-specific shifts. Use when calling peaks from ChIP-seq alignments, choosing between narrow vs broad mode for a histone mark, deciding model vs nomodel for low-depth data, applying ENCODE pseudoreplicate IDR, or reconciling MACS vs HOMER vs SPP results.
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Assesses ChIP-seq quality across antibody specificity, fragmentation, enrichment, replicate concordance, and library complexity. Computes FRiP, NSC/RSC (phantompeakqualtools), library complexity (NRF/PBC1/PBC2), deepTools plotFingerprint (JS distance, AUC, synthetic JS), ChIPQC, IDR with ENCODE Nself/Nt rules, and detects hyper-ChIPable artifacts. Use when validating an antibody, diagnosing failed peak calls, deciding whether to proceed with downstream analysis, grading against ENCODE thresholds, or auditing replicate concordance.
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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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ATAC-seq library quality control -- TSS enrichment, FRiP, fragment-size periodicity, library complexity (NRF/PBC1/PBC2), mitochondrial fraction, and ENCODE 4 thresholds. Use when assessing whether an ATAC-seq library passes ENCODE acceptance criteria, diagnosing transposition artefacts, comparing Omni-ATAC vs standard prep quality, or selecting which replicates to drop before peak calling.
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Comprehensive backend development guide for Langfuse's Next.js 14/tRPC/Express/TypeScript monorepo. Use when creating tRPC routers, public API endpoints, BullMQ queue processors, services, or working with tRPC procedures, Next.js API routes, Prisma database access, ClickHouse analytics queries, Redis queues, OpenTelemetry instrumentation, Zod v4 validation, env.mjs configuration, tenant isolation patterns, or async patterns. Covers layered architecture (tRPC procedures → services, queue processors → services), dual database system (PostgreSQL + ClickHouse), projectId filtering for multi-tenant isolation, traceException error handling, observability patterns, and testing strategies (Jest for web, vitest for worker).
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Treats a ctDNA assay as a molecule-counting experiment at the Poisson edge and builds its analytical-validation case the measurement-science way. Covers the genome-equivalent currency (~330 haploid copies/ng), the lambda = input_GE x VAF sampling ceiling (lambda>=3 for ~95% detection), the error-suppression ladder (raw NGS ~1e-3 -> single-strand UMI ~1e-4/1e-5 -> duplex <1e-7), the CLSI EP17 LoB/LoD/LoD95/LoQ framework, the per-locus-vs-panel-integrated LoD distinction that lets bespoke MRD reach ppm, contrived/SEQC2 reference standards, and honest LoD reporting conditioned on input mass + consensus depth + replicate detection rate. Use when stating or trusting a sensitivity claim, designing a dilution-series validation, deciding how many genome equivalents are needed at a target VAF, choosing a single-locus vs panel-integrated LoD, or auditing a "detects 0.1% VAF" claim.
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Plan, execute, and document validation, verification, and transfer of analytical procedures under the governing framework - ICH Q2(R2) and Q14, USP <1220>/<1225>/<1226>, ICH M10 bioanalytical, CLSI EP, or ISO/IEC 17025. Use for HPLC, LC-MS/MS, GC, CE, ICP-MS, dissolution, qNMR, qPCR, NIR, and ligand binding or cell-based assays whenever the question is whether a procedure is fit for its intended purpose. Triggers include "method validation", "analytical method validation", "AMV", "validation protocol", "acceptance criteria", "linearity", "reportable range", "accuracy and precision", "repeatability", "intermediate precision", "recovery", "LOD", "LOQ", "detection limit", "quantitation limit", "specificity", "robustness", "method transfer", "method comparison", "Deming", "Passing-Bablok", "Bland-Altman", "equivalence testing", "OOS investigation", "ICH Q2", "Q2(R2)", "Q14", "USP 1225", "ICH M10", "incurred sample reanalysis", "ISR", "CLSI EP", and any request to show that an assay works.
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Apply the four published expert-consensus clinical scenarios to manage GI adverse events in complex GLP-1 receptor agonist patients — persistent nausea mid-titration, GERD/heartburn after up-titration, elderly with sarcopenia risk, and insulin-treated elderly with CKD plus diarrhoea. Use when a clinician describes a patient resembling one of these archetypes, or asks "how to manage GLP-1 in an elderly patient with CKD", "patient on liraglutide developed reflux", "sarcopenia worry on semaglutide in 80-year-old", or "persistent nausea on semaglutide despite escalation". Grounded in Gorgojo-Martínez 2023 Table 4.
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Decide whether commonly-excluded patients (eating disorders, elderly ≥75, upper GI disease) can actually receive a GLP-1 receptor agonist. Use when a clinician asks "can I give semaglutide to a patient with binge eating disorder / anorexia / bulimia", "is liraglutide safe in an 80-year-old", "GLP-1 with GERD or chronic gastritis", "GLP-1 in sarcopenic elderly", or anytime a patient is being ruled out for GLP-1 therapy based on a perceived contraindication. Grounded in Gorgojo-Martínez 2023 §6 (Myths or Reality).
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This skill screens for pregnancy intention in individuals with preexisting diabetes at every reproductive, diabetes, primary care, and urgent care/ER visit when clinically appropriate. Trigger phrases include reproductive planning, preconception care, or pregnancy intention discussion.
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Provides guidance on acceptable blood sampling conditions for primary aldosteronism screening when ideal early‑morning supine fasting conditions cannot be met. Triggers include when a clinician says “The patient wasn’t fasting/supine” or questions whether non‑ideal sampling affects screening validity.
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Recommends mineralocorticoid receptor antagonists for all primary aldosteronism patients to prevent target organ damage, irrespective of blood pressure control or serum potassium levels. Triggered when a clinician encounters a PA patient with well‑controlled BP and normal K and wonders, 'Do I still need to treat with MRA?' or considers stopping therapy.
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Determines whether to recommend unilateral laparoscopic adrenalectomy or medical therapy with a mineralocorticoid receptor antagonist for patients with confirmed unilateral PA (aldosterone-producing adenoma or unilateral adrenal hyperplasia). Triggered when discussing treatment options after confirming unilateral PA in a hypertensive patient with hypokalemia or resistant hypertension.
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Recommends antihypertensive therapy including mineralocorticoid receptor antagonists (MRAs) for patients with a positive primary aldosteronism (PA) screening test who decline confirmatory testing. Triggers include when a patient has positive screening but refuses additional tests and asks "What should I treat with?" or initiates empiric therapy, with preference for MRAs in typical PA presentations (e.g., spontaneous hypokalemia, resistant hypertension, adrenal tumor on CT).
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Determines whether to recommend adrenalectomy or mineralocorticoid receptor antagonists for primary aldosteronism based on PA subtype and patient/surgical factors. Triggered after subtype confirmation when clinicians ask “Should this patient have surgery or medical treatment?” or discuss treatment options with the patient.
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Selects spironolactone as first-line mineralocorticoid receptor antagonist for bilateral primary aldosteronism, with eplerenone as an alternative when spironolactone–related adverse effects are problematic. Trigger phrases include 'confirmed bilateral PA on AVS', 'idiopathic adrenal hyperplasia', 'bilateral adrenal hyperplasia', 'glucocorticoid-remediable aldosteronism', and 'initiating medical therapy for bilateral adrenal disease'.
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In patients with primary aldosteronism receiving mineralocorticoid receptor antagonist therapy, the guideline recommends titrating the MRA dose upward to raise renin when blood pressure remains uncontrolled and renin is suppressed. Consider this step when hypertension is not at goal despite MRA therapy and plasma renin activity (or direct renin concentration) is low.
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Recommends using mineralocorticoid receptor antagonists rather than epithelial sodium-channel inhibitors for medical treatment of primary aldosteronism. Use when a clinician asks whether to use an MRA or ENaC inhibitor for medical treatment of PA.
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