II.
LibraryProcess overview
Reference · livelib-process:bioinformatics--rare-disease-diagnostics
rare-disease-diagnostics overview
Rare Disease Diagnostic Pipeline - Specialized workflow for diagnosing rare genetic diseases using exome/genome sequencing with phenotype-driven prioritization and family-based analysis.
Attributes
displayName
rare-disease-diagnostics
description
Rare Disease Diagnostic Pipeline - Specialized workflow for diagnosing rare genetic diseases
using 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/ - Phenomizer: https://compbio.charite.de/phenomizer/ - OMIM: https://www.omim.org/ - Orphanet: https://www.orpha.net/
example
const result = await orchestrate('specializations/domains/science/bioinformatics/rare-disease-diagnostics', {
projectName: 'Rare Disease Case',
proband: { id: 'PROBAND001', vcf: '/data/proband.vcf' },
parents: { mother: { id: 'MOM001', vcf: '/data/mother.vcf' }, father: { id: 'DAD001', vcf: '/data/father.vcf' } },
phenotypes: ['HP:0001249', 'HP:0001250', 'HP:0001263']
});
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.