GA4GH Categorical Variation Representation Specification
HEAD
Introduction
Background and Problem Statement
Challenges to Unifying the Representation of Categorical Variants
Discussion
How Cat-VRS Works
Variant Matching and Knowledge Integration
Discussion
Getting Involved
Data Model
Cat-VRS Model
Categorical Variant
Constraint
DefiningAlleleConstraint
DefiningLocationConstraint
CopyCountConstraint
CopyChangeConstraint
FeatureContextConstraint
Recipes
CanonicalAllele
ProteinSequenceConsequence
CategoricalCnv
Imported Data Types & Classes
VRS
Variation
Allele
Copy Number Count
Copy Number Change
Location
Sequence Location
Expression
Range
GKS Core
Entity
Element
Extension
MappableConcept
ConceptMapping
Coding
code
iriReference
Implementation Guide
1.0 (pre-releases)
1.0.0.04-2024.connect
Appendices
GKS Maturity Model
Feature Maturity levels
Developing a Draft Product Feature
Advancing from Draft to Trial Use
Advancing from Trial Use to Normative
Product Versioning and Releases
Versioning examples
Releases
Decision-maker roles
Feature Developers
Product Implementers
Product Leads
Work Stream Leads
Cat-VRS Record of Design Decisions
Major Impact
Medium Impact
Minor Impact
Frequently Asked Questions
GA4GH Categorical Variation Representation Specification
Appendices
Frequently Asked Questions
Edit on GitHub
Frequently Asked Questions
How can I learn more about VRS?
See
Cat-VRS Discussion
How can I get involved?
See
Getting Involved
.