journal-source-research
GitHub用于在最终解释前,针对特定基因、药物或变异等目标,检索并验证外部公共来源证据(如gnomAD频率、ClinVar断言),并将审查后的发现写回证据库,以支持更准确的临床解读。
Trigger Scenarios
Install
npx skills add exon-research/genomi --skill journal-source-research -g -y
SKILL.md
Frontmatter
{
"name": "journal-source-research",
"tools": [
"research.list_sources",
"research.build_target_packet",
"gnomad.fetch_population_frequency",
"phenotype.plan_risk_investigation",
"pharmacogenomics.fetch_pgxdb",
"research.record",
"research.query",
"research.search"
],
"mutating": true,
"description": "Journal sub-skill for focused public\/source evidence review and reviewed\nfinding write-back before interpretation or answer synthesis.\n"
}
Journal Source Research
Use this Journal sub-skill when a claim needs source context beyond local static rows: current ClinVar assertion, gene mechanism, inheritance, penetrance, guideline evidence, population tension, or literature/source conflict.
Goal
Review focused public targets and write reviewed findings back into the local
evidence DB before using them in final interpretation. In capability discovery,
these tools are part of journal because they create reusable investigation
memory rather than a separate evidence category.
Works with Active Genome Index context and public-only context. If Active Genome Index context exists, use its evidence DB for user-specific context. With public-only context, use the shared evidence DB and frame the answer as public-target source review.
Convention: See
skills/conventions/evidence-quality.md. Convention: Seeskills/_output-rules.md.
Contract
Contract:
- External research uses selected public targets only.
- API-backed sources are marked in tool
dependencyContract.externalNetwork; local source files are marked independencyContract.localResources. If an API source is unavailable, the tool returnssource_unavailable. - Reviewed source findings are written back before final interpretation.
- Shared evidence is reusable public-target knowledge.
- Private evidence is reserved for user-specific combinations and context.
- Public-only answers describe public-target evidence.
Cross-Capability Synthesis
A scope-limited result from this capability is not a final user-facing answer when other Genomi capabilities can contribute orthogonal evidence to the same question. Returning "cannot answer" while applicable capabilities remain unexamined is a host-agent failure mode.
Tools
gnomad.fetch_population_frequency
Fetch reusable gnomAD public population frequency for one allele and write it into evidence storage.
Use when: gnomAD population frequency would change interpretation of an exact public allele or candidate variant.
Why necessary: gnomAD allele frequency changes interpretation; common and rare variants should not be discussed the same way.
Result semantics: Writes reusable aggregate public gnomAD frequency rows using selected public allele data.
research.build_target_packet
Build a target-centric evidence packet after the agent identifies the user's target.
Use when: The agent has selected a gene, drug, condition, topic, or allele and needs local/source context for synthesis.
Why necessary: A target packet keeps gene, drug, condition, topic, and allele context grouped before synthesis.
Result semantics: Returns context and source candidates for agent synthesis.
research.list_sources
List source catalogs relevant to a target type or one source ID.
Use when: choosing public source families for a target type or inspecting one source contract.
Why necessary: Source choice is part of the evidence contract; agents need to know which public adapters fit a target.
Result semantics: Returns source adapter and focused-review contracts for the host agent's selected public target.
research.query
Retrieve reviewed research for an exact target from local evidence storage.
Use when: the agent needs stored reviewed research for one exact target.
Why necessary: Exact-target research retrieval prevents agents from relying on vague memory of prior reviews.
research.record
Store reviewed source findings or tool-returned record_research_payloads in evidence storage with explicit shared/private scope.
Use when: Use after the agent has a reviewed source finding or tool-returned research payload that should be stored with scope.
Why necessary: Reviewed findings need durable, scoped storage so later answers can reuse source-backed evidence.
Result semantics: Writes reviewed public-target or private user-specific findings according to scope; private scope requires an active/private evidence DB.
research.search
Token-search reviewed research findings stored in local evidence storage.
Use when: the agent needs token search across stored reviewed findings and does not have exact target fields.
Why necessary: Token search recovers stored findings when exact target fields are unknown.
Privacy Boundary
External research may use selected public targets: gene, rsID, normalized allele, drug, condition, topic, or guideline question. Intake files, broad candidate inventories, and private phenotype/medication/family context stay local unless the user explicitly chooses broader sharing.
Record Before Use
For source-backed interpretation, store a reviewed finding JSON file or an inline payload returned by a Genomi source tool:
research.recordwith{"input":"finding.json","scope":"shared"}research.recordwith{"payload":{"target":{"type":"drug","drug":"clopidogrel"},"source":{"title":"CPIC","url":"https://cpicpgx.org/guidelines/"},"finding":{"type":"pgx_guideline","text":"short reviewed finding"}},"scope":"shared"}
With public-only context, db can be omitted and Genomi will use the shared
evidence DB.
Use shared for reusable public-target knowledge. Use private for
user-specific combinations, phenotype, medications, family history, or personal
interpretation. Private scope uses the selected Active Genome Index evidence DB
or an explicit private db.
Source Selection
Use research.list_sources before focused review when the source choice is uncertain.
Each source returns:
query_mode: implemented operation or focused source review.public_target_inputs: the fields safe to use for external review.available_operations: Genomi tools that support the source.reviewed_finding_shape: fields to store withresearch.record.
For GeneCards- or MalaCards-style context, use phenotype.plan_risk_investigation to keep gene
function, disease association, and clinical-validity cross-checks separated.
For implemented sources, call the listed adapter first. For focused-review sources, review the official source or primary literature for the selected public target, extract the narrow finding needed for the user's question, and write it back as reviewed evidence.
Operating Checks
- Send selected public targets to external research.
- Use cited source findings as final evidence.
- Store reusable public-target knowledge as shared evidence.
- Store user-specific interpretation as private evidence.
- Write reviewed findings back before using a source in an answer.
Version History
- 47e0d05 Current 2026-07-05 10:54


