“mutation”的搜索结果

Decides how to preprocess plasma cfDNA sequencing data so the recoverable signal survives - library-prep-aware fragment expectations (dsDNA vs ssDNA/adaptase prep), UMI/duplex consensus with fgbio (ExtractUmisFromBam, GroupReadsByUmi --strategy paired for duplex, CallMolecularConsensusReads vs CallDuplexConsensusReads, FilterConsensusReads min-reads "total s1 s2"), the align->group->consensus->RE-align ordering, and the cfDNA dedup trap where naive coordinate dedup collapses nucleosome-coincident independent molecules. Covers when single-strand consensus suffices vs when duplex is mandatory, the singleton/sensitivity tax at low input, and reading the insert-size histogram as a pre-analytical QC instrument. Use when processing plasma cfDNA reads before fragmentomics, ctDNA mutation calling, or tumor-fraction estimation.

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Determines when to test for germline KCNJ5 mutations indicating familial hyperaldosteronism type III in very young patients with primary aldosteronism. Triggered by severe early-onset hypertension with hypokalemia in infants or young children (<20 years) with confirmed PA.

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Diagnose monogenic and syndromic obesity in children and adolescents using a structured step-by-step algorithm. Use this skill whenever a clinician suspects a genetic cause of obesity, asks about leptin deficiency, MC4R mutation, POMC deficiency, PCSK1 deficiency, leptin receptor deficiency, Bardet-Biedl syndrome, Prader-Willi syndrome, Alström syndrome, or any case of early-onset severe obesity with hyperphagia. Also trigger for questions about targeted pharmacotherapy including setmelanotide or metreleptin, or when to order a genomic obesity panel. Cross-references the NHS Genomic Test Finder skill to surface the relevant R-code once a diagnosis is reached.

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Audit whether tests detect broken behavior by tracing assertions and running narrow controlled mutations in an isolated workspace; use for test-quality reviews, not routine test execution.

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Expert-level discrete mathematics knowledge. Use when working with logic, set theory, combinatorics, graph theory, relations, functions, induction, recursion, boolean algebra, or discrete probability. Also use when the user mentions 'combinatorics', 'permutations', 'combinations', 'pigeonhole principle', 'inclusion-exclusion', 'generating functions', 'recurrence relations', 'graph theory', 'trees', 'logic', 'propositional calculus', or 'boolean algebra'.

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Build, extend, validate, and publish a ChatGPT Sites application whose durable database and backend functions run on Convex. Use when a user invokes $codex-sites-convex, selects this skill from the skill picker, asks for a ChatGPT Site backed by Convex, or asks to add Convex data, realtime queries, mutations, authentication, files, schedules, or actions to an existing ChatGPT Sites project.

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Plan, write, and maintain automated tests in any language, with worked examples in Python and JavaScript/TypeScript. Use this skill whenever the user wants to write or plan tests, apply TDD (red-green-refactor), structure unit tests with arrange-act-assert and given-when-then naming, choose between fakes, stubs, and mocks, set up dependency injection for testability, build integration tests with testcontainers, database seeding, or transaction rollback, write Playwright or Cypress end-to-end tests, use property-based testing with Hypothesis or fast-check, create pytest fixtures or factory_boy factories, review coverage or mutation testing, or triage flaky tests in CI. Also trigger for "test pyramid", "test trophy", "test isolation", "mocking", "snapshot tests", "golden files", "parametrized tests", "make the tests pass".

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Build, extend, validate, and publish a ChatGPT Sites application whose durable database and backend functions run on Convex. Use when a user invokes $codex-sites-convex, selects this skill from the skill picker, asks for a ChatGPT Site backed by Convex, or asks to add Convex data, realtime queries, mutations, authentication, files, schedules, or actions to an existing ChatGPT Sites project.

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Use when adding a test to an existing codebase for behavior that is already implemented. Ensures the test is meaningful by mutation-verifying it — breaking the production code to confirm the test fails for the expected reason. Triggers when the user says "add a test for existing behavior", "backfill test coverage", "the test passes on first run", or any scenario where a test is written without a corresponding new production change.

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Run a two-agent proxy approval council for autonomous sprint gates. Use when a sprint needs delegated approval for human gates such as deploy, live mutation, push, cleanup, skip, or shortened watch decisions, while requiring two independent agents to reach consensus that the human principal would approve under written policy and preferences.

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Implement reusable interactions, verbs, in-hand use, actions, and BUI requests with clear validation and mutation.

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Solves complex, open-ended problems using an evolutionary search mechanism inspired by genetic algorithms. Generates a diverse population of candidate answers, scores them against a rubric, then iteratively applies selection, crossover, and mutation to breed progressively better solutions. Use this skill whenever the user wants to explore a solution space deeply, asks for the "best" answer to a subjective or multi-dimensional problem, wants to evaluate competing approaches and distill the strongest, or uses any of these triggers: "evolutionary search", "genetic algorithm", "evolve an answer", "breed solutions", "population-based search", or phrases like "give me multiple approaches and refine the best one". Also trigger when the problem is complex, open-ended, or has no obvious single correct answer and the user wants a high-quality, well-explored result, not just a quick response.

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Guide for when to use and when not to use return validators in Convex functions. Use this skill whenever the user is writing Convex queries, mutations, or actions and needs guidance on return value validation. Also trigger when the user asks about Convex type safety, runtime validation, AI-generated Convex code, Convex AI rules, Convex security best practices, or when they're debugging return type issues in Convex functions. Trigger this skill when users mention "validators", "returns", "return type", or "exact types" in the context of Convex development. Also trigger when writing or reviewing Convex AI rules or prompts that instruct LLMs how to write Convex code.

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Create Convex queries, mutations, and actions with proper validation, authentication, and error handling. Use when implementing new API endpoints.

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Full-stack Convex development guidelines covering React, Vite, TypeScript, mutations, auth, design system, and documentation practices. Use when building features, writing Convex functions, or making code changes in this project.

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Convex backend specialist. Use this agent for any code inside a `convex/` directory — function definitions, schemas, indexes, queries, mutations, actions, HTTP endpoints, cron jobs, file storage, auth wiring, and component installation. Knows the object-form function syntax, validator patterns, resource limits, and component ecosystem that generic Claude routinely gets wrong.

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Design and build reactive, type-safe, production-grade backends on Convex. Covers schema, queries/mutations/actions, indexes, auth, file storage, scheduling, real-time multiplayer, mobile backends, and LLM/agent workflows on Convex's one-platform stack.

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Guide for when to use and when not to use return validators in Convex functions. Use this skill whenever the user is writing Convex queries, mutations, or actions and needs guidance on return value validation. Also trigger when the user asks about Convex type safety, runtime validation, AI-generated Convex code, Convex AI rules, Convex security best practices, or when they're debugging return type issues in Convex functions. Trigger this skill when users mention "validators", "returns", "return type", or "exact types" in the context of Convex development. Also trigger when writing or reviewing Convex AI rules or prompts that instruct LLMs how to write Convex code.

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Create Convex queries, mutations, and actions with proper validation, authentication, and error handling. Use when implementing new API endpoints.

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Design and build reactive, type-safe, production-grade backends on Convex. Covers schema, queries/mutations/actions, indexes, auth, file storage, scheduling, real-time multiplayer, mobile backends, and LLM/agent workflows on Convex's one-platform stack.

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Convex backend specialist. Use this agent for any code inside a `convex/` directory — function definitions, schemas, indexes, queries, mutations, actions, HTTP endpoints, cron jobs, file storage, auth wiring, and component installation. Knows the object-form function syntax, validator patterns, resource limits, and component ecosystem that generic Claude routinely gets wrong.

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Full-stack Convex development guidelines covering React, Vite, TypeScript, mutations, auth, design system, and documentation practices. Use when building features, writing Convex functions, or making code changes in this project.

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Turn surviving mutants into better tests or bug reports: on a survivor, a red MSI gate, or before a threshold drops.

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Detect typosquatting, homograph phishing, and brand impersonation domains using dnstwist to generate domain permutations and identify registered lookalike domains targeting your organization.

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