II.
LibraryProcess overview
Reference · livelib-process:bioinformatics--newborn-screening-genomics
newborn-screening-genomics overview
Newborn Screening Genomics - Rapid genomic analysis workflow optimized for newborn screening applications with focus on turnaround time and actionable findings.
Attributes
displayName
newborn-screening-genomics
description
Newborn Screening Genomics - Rapid genomic analysis workflow optimized for newborn screening
applications with focus on turnaround time and actionable findings.
libraryPath
library/specializations/domains/science/bioinformatics/newborn-screening-genomics.js
specialization
bioinformatics
references
- - ACMG Newborn Screening: https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/Practice-Guidelines.aspx - BabySeq: https://www.genomes2people.org/babyseq/ - RUSP: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
example
const result = await orchestrate('specializations/domains/science/bioinformatics/newborn-screening-genomics', {
projectName: 'Newborn Screen Case',
newborn: { id: 'NB001', dob: '2025-01-20', vcf: '/data/newborn.vcf' },
screeningPanel: 'ACMG59',
urgentMode: true
});
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.