「variants」の検索結果

Analyzes genetic variant effects on gene expression (RNA-seq), chromatin accessibility (DNASE), histone marks (ChIP), and transcription factors using the AlphaGenome API. Use when the user asks about non-coding variant effects, pathogenicity, clinical significance, disease associations, functional effects, gene expression changes, splicing disruption, or regulatory effects in promoters and enhancers. Also use for resolving biological terms to tissue/cell-type ontologies (UBERON/CL) or analyzing variants in chr:pos:ref>alt format.

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。

Create Pydantic models following the multi-model pattern with Base, Create, Update, Response, and InDB variants. Use when defining API request/response schemas, database models, or data validation in Python applications using Pydantic v2.

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。

Analyze PacBio Iso-Seq data for full-length isoform discovery and quantification. Use when characterizing transcript diversity or identifying novel splice variants.

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。

Detect copy number variants from targeted/exome sequencing using CNVkit. Supports tumor-normal pairs, tumor-only, and germline CNV calling. Use when detecting CNVs from WES or targeted panel sequencing data.

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 using GATK best practices workflow. Supports both somatic (tumor-normal) and germline CNV detection from WGS or WES data. Use when following GATK best practices or integrating CNV calling with other GATK variant pipelines.

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。

Detects somatic mutations in circulating tumor DNA using variant callers optimized for low allele fractions with UMI-based error suppression. Reliably detects mutations at VAF above 0.5 percent using consensus-based approaches. Use when identifying tumor mutations from plasma DNA or tracking specific variants.

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。

Generate consensus FASTA sequences by applying VCF variants to a reference using bcftools consensus. Use when creating sample-specific reference sequences or reconstructing haplotypes.

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。

Variant calling with GATK HaplotypeCaller following best practices. Covers germline SNP/indel calling, GVCF workflow for cohorts, joint genotyping, and variant quality score recalibration (VQSR). Use when calling variants with GATK HaplotypeCaller.

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。

Calculate polygenic risk scores using PRSice-2, LDpred2, or PRS-CS from GWAS summary statistics. Use when predicting disease risk from genome-wide genetic variants.

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。

Test whether two traits share a causal variant at a genomic locus using Bayesian colocalization with coloc. Computes posterior probabilities for shared vs distinct causal variants between GWAS and eQTL signals. Use when determining if a GWAS signal and an eQTL share the same causal variant.

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。

Query gnomAD for population allele frequencies to assess variant rarity. Use when filtering variants by population frequency for rare disease analysis or determining if a variant is common in the general population.

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。

Extract and analyze mutational signatures from somatic variants using SigProfiler or MutationalPatterns to characterize mutagenic processes. Use when identifying DNA damage mechanisms or etiology in cancer genomes.

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。

Query myvariant.info API for aggregated variant annotations from multiple databases (ClinVar, gnomAD, dbSNP, COSMIC, etc.) in a single request. Use when annotating variants with clinical and population data from multiple sources simultaneously.

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。

Estimate causal effects between exposures and outcomes using genetic variants as instrumental variables with TwoSampleMR. Implements IVW, MR-Egger, weighted median, and MR-PRESSO methods for robust causal inference from GWAS summary statistics. Use when testing whether an exposure causally affects an outcome using genetic instruments.

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。

Decompose genetic effects into direct and indirect paths through mediating variables using the mediation R package. Tests whether gene expression, methylation, or other molecular phenotypes mediate the effect of genetic variants on disease. Use when testing whether a molecular phenotype mediates the genotype-to-phenotype relationship.

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。

Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.

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。

Query PharmGKB and CPIC for drug-gene interactions, pharmacogenomic annotations, and dosing guidelines. Use when predicting drug response from genetic variants or implementing clinical pharmacogenomics.

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。

Convert abstract edge concepts into strategy draft variants and optional exportable ticket YAMLs for edge-candidate-agent export/validation.

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。

Use when the user asks to "monitor brand mentions", "set up social listening", "did anything spike about us this week", or "watch these accounts for buying triggers"; runs always-on keyless listening — a versioned listening-query architecture (brand variants incl. misspellings and 中文 names, exclusion terms, per-source syntax for HN Algolia / Bluesky / GDELT / Tavily), a mention sweep with six-class triage (crisis / bug / lead / praise / question / spam) each routed with an SLA, a 7-day rolling baseline with spike flags (the crisis trigger input), a B2B trigger watchlist (funding / hiring / launch signals), and an explicit coverage disclosure where X/IG/TikTok/LinkedIn/小红书 numbers are proxy-labeled, never Measured. Not for launch-window telemetry (T-0→T+30 rank and review polling) — use launch-monitor. 舆情监听/品牌提及监测/基线突刺/触发信号

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。

Use when the user asks to "generate subject line variants", "pre-score my subject lines", or "will this subject get truncated / trigger spam filters"; produces a labeled subject + preheader variant set and a per-variant heuristic pre-score card — spam-trigger flags, length/truncation across desktop + mobile, emoji-count, and the inbox preview render (from-name + subject + preheader) — before any test is run. Not for the body copy or CTA — use email-creative-builder; not for the A/B test design or significance read — use send-experiment-designer; not for the profile-weighted EQS or the S1/S2/N1/D1 vetoes — use email-quality-auditor. 邮件主题行生成/主题行预打分/截断与垃圾词检查

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。

Use when the user asks to "design an A/B test", "set up a creative/landing test", "run an incrementality test", or "is this result statistically and practically material?"; produces a hypothesis, variant matrix, sample-size/duration/power plan, and a documented effect/uncertainty read from own exported results. It applies only a precommitted owner-approved action rule; the statistical helper never chooses a business action. Not for producing variants — use ad-creative-builder; not for reading back one shipped change — use paid-measurement-loop. 广告AB测试设计/实验设计/显著性判定/增效测试

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。

Design an A/B experiment — hypothesis, variants, primary metric, and sample size. Use when a change can be measured quantitatively at scale. For observing behaviour qualitatively, use `test-scenario`.

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。

Design theming architecture — brand variants, dark mode, and high-contrast — mapped through token layers. Use when one system must serve multiple themes. For a single palette use `color-system` (ui-design); for dark mode craft use `dark-mode-design` (ui-design).

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。

Specify one component — props, states, variants, accessibility, and usage rules. Use when defining a library component. For the reusable doc scaffold use `documentation-template`; for a problem-solution pattern use `pattern-library`.

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。