II.
LibraryProcess overview
Reference · livelib-process:bioinformatics--clinical-variant-interpretation
clinical-variant-interpretation overview
Clinical Variant Interpretation - Systematic process for interpreting genetic variants according to ACMG/AMP guidelines for clinical reporting. Includes pathogenicity classification, evidence curation, and report generation.
Attributes
displayName
clinical-variant-interpretation
description
Clinical Variant Interpretation - Systematic process for interpreting genetic variants
according to ACMG/AMP guidelines for clinical reporting. Includes pathogenicity classification,
evidence curation, and report generation.
libraryPath
library/specializations/domains/science/bioinformatics/clinical-variant-interpretation.js
specialization
bioinformatics
references
- - ACMG/AMP Guidelines: https://www.nature.com/articles/gim201530 - ClinGen: https://clinicalgenome.org/ - ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/ - gnomAD: https://gnomad.broadinstitute.org/
example
const result = await orchestrate('specializations/domains/science/bioinformatics/clinical-variant-interpretation', {
projectName: 'Rare Disease Case Review',
variants: [{ gene: 'BRCA1', hgvs: 'c.5266dupC' }],
phenotype: 'Breast cancer, early onset',
inheritancePattern: 'autosomal-dominant'
});
usesAgents
- general-purpose
Outgoing edges
lib_applies_to_domain1
- domain:bioinformatics·DomainBioinformatics
lib_belongs_to_specialization2
- specialization:biomedical-informatics·SpecializationBiomedical Informatics
- specialization:bioinformatics·SpecializationBioinformatics
lib_implements_workflow1
- workflow:experiment-design·WorkflowExperiment Design
lib_involves_role2
- role:research-engineer·RoleResearch Engineer
- role:biomedical-engineer·RoleBiomedical Engineer
lib_requires_skill_area3
- skill-area:data-analysis·SkillAreaData Analysis
- skill-area:statistical-analysis·SkillAreaStatistical Analysis
- skill-area:python-data-pipelines·SkillAreaPython Data Pipelines
Incoming edges
None.