{
  "id": "lib-process:bioinformatics--rare-disease-diagnostics",
  "_kind": "LibraryProcess",
  "_file": "generated-library/processes.yaml",
  "_cluster": "generated-library",
  "attributes": {
    "displayName": "rare-disease-diagnostics",
    "description": "Rare Disease Diagnostic Pipeline - Specialized workflow for diagnosing rare genetic diseases\nusing exome/genome sequencing with phenotype-driven prioritization and family-based analysis.",
    "libraryPath": "library/specializations/domains/science/bioinformatics/rare-disease-diagnostics.js",
    "specialization": "bioinformatics",
    "references": [
      "- Exomiser: https://exomiser.github.io/Exomiser/\n- Phenomizer: https://compbio.charite.de/phenomizer/\n- OMIM: https://www.omim.org/\n- Orphanet: https://www.orpha.net/"
    ],
    "example": "const result = await orchestrate('specializations/domains/science/bioinformatics/rare-disease-diagnostics', {\n  projectName: 'Rare Disease Case',\n  proband: { id: 'PROBAND001', vcf: '/data/proband.vcf' },\n  parents: { mother: { id: 'MOM001', vcf: '/data/mother.vcf' }, father: { id: 'DAD001', vcf: '/data/father.vcf' } },\n  phenotypes: ['HP:0001249', 'HP:0001250', 'HP:0001263']\n});",
    "usesAgents": [
      "general-purpose"
    ]
  },
  "outgoingEdges": [
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "skill-area:data-analysis",
      "kind": "lib_requires_skill_area",
      "attributes": {
        "weight": 1
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "skill-area:statistical-analysis",
      "kind": "lib_requires_skill_area",
      "attributes": {
        "weight": 0.7
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "skill-area:python-data-pipelines",
      "kind": "lib_requires_skill_area",
      "attributes": {
        "weight": 0.5
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "domain:bioinformatics",
      "kind": "lib_applies_to_domain",
      "attributes": {
        "weight": 1
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "role:research-engineer",
      "kind": "lib_involves_role",
      "attributes": {
        "weight": 1
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "role:biomedical-engineer",
      "kind": "lib_involves_role",
      "attributes": {
        "weight": 0.7
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "workflow:experiment-design",
      "kind": "lib_implements_workflow",
      "attributes": {
        "weight": 1
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "specialization:biomedical-informatics",
      "kind": "lib_belongs_to_specialization",
      "attributes": {
        "weight": 1
      }
    },
    {
      "from": "lib-process:bioinformatics--rare-disease-diagnostics",
      "to": "specialization:bioinformatics",
      "kind": "lib_belongs_to_specialization",
      "attributes": {
        "weight": 0.9
      }
    }
  ],
  "incomingEdges": []
}