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lib-skill:bioinformatics--acmg-variant-classifiera5c.ai
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lib-skill:bioinformatics--acmg-variant-classifier

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acmg-variant-classifier overview

ACMG/AMP variant classification skill for systematic pathogenicity assessment

LibrarySkillOutgoing · 9Incoming · 0

Attributes

displayName
acmg-variant-classifier
description
ACMG/AMP variant classification skill for systematic pathogenicity assessment
libraryPath
library/specializations/domains/science/bioinformatics/skills/acmg-variant-classifier/SKILL.md
specialization
bioinformatics
contentSummary
# ACMG Variant Classifier Skill ## Purpose Enable ACMG/AMP variant classification for systematic pathogenicity assessment following clinical guidelines. ## Capabilities - Automated evidence criteria application - Population frequency filtering - In silico prediction integration - Literatu

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:biomedical-engineer·RoleBiomedical Engineer
  • role:research-scientist·RoleResearch Scientist
lib_requires_skill_area3
  • skill-area:statistical-analysis·SkillAreaStatistical Analysis
  • skill-area:data-analysis·SkillAreaData Analysis
  • skill-area:python-data-pipelines·SkillAreaPython Data Pipelines

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