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vrs-source.yaml
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vrs-source.yaml
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# VRS uses yaml as the source document for json schema
#
# To convert vrs.yaml to vrs.json:
# make vrs.json
# You'll probably have to `pip install pyyaml` first.
#
# To watch for changes and update automatically:
# make watch &
# https://json-schema.org/understanding-json-schema/reference/schema.html
$schema: "http://json-schema.org/draft-07/schema"
title: "GA4GH-VRS-Definitions"
type: object
definitions:
# VRS definitions are presented top-down. Everything rolls up to
# Variation, which is a polymorphic abstraction of many kinds of
# variation.
# =============================================================================
# Kinds of Variation
# =============================================================================
Variation.v2:
maturity: draft
description: >-
A representation of the state of one or more biomolecules.
oneOf:
- $ref: "#/definitions/MolecularVariation.v2"
- $ref: "#/definitions/SystemicVariation.v2"
- $ref: "#/definitions/UtilityVariation"
heritable_properties:
id:
$ref: "#/definitions/CURIE"
description: >-
Variation Id. MUST be unique within document.
type:
type: string
description: >-
The Variation class type. MUST match child class type.
heritable_required: ["type"]
discriminator:
propertyName: type
MolecularVariation.v2:
maturity: draft
description: >-
A :ref:`variation` on a contiguous molecule.
oneOf:
- $ref: "#/definitions/Allele.v2"
- $ref: "#/definitions/Haplotype"
discriminator:
propertyName: type
UtilityVariation:
maturity: stable
description: >-
A collection of :ref:`Variation` subclasses that cannot be
constrained to a specific class of biological variation, but
are necessary for some applications of VRS.
oneOf:
- $ref: "#/definitions/Text"
- $ref: "#/definitions/VariationSet"
discriminator:
propertyName: type
SystemicVariation.v2:
maturity: draft
description: >-
A Variation of multiple molecules in the context of a system, e.g.
a genome, sample, or homologous chromosomes.
oneOf:
- $ref: "#/definitions/AbsoluteCopyNumber"
- $ref: "#/definitions/RelativeCopyNumber"
discriminator:
propertyName: type
# =============================================================================
# IDENTIFIABLE TYPES
# Have a `type` and `id` attribute
# =============================================================================
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Molecular Variation
Allele.v2:
description: >-
The state of a molecule at a :ref:`Location`.
additionalProperties: false
type: object
maturity: draft
prefix: VA.v2
properties:
type:
type: string
const: "Allele"
description: >-
MUST be "Allele"
location:
oneOf:
- $ref: "#/definitions/CURIE"
- $ref: "#/definitions/SequenceLocation.v2"
description: >-
Where Allele is located
state:
$ref: "#/definitions/SequenceExpression"
description: >-
An expression of the sequence state
required: [ "location", "state" ]
Haplotype:
description: >-
A set of non-overlapping :ref:`Allele` members that co-occur on the same molecule.
additionalProperties: false
type: "object"
properties:
type:
type: string
const: "Haplotype"
description: >-
MUST be "Haplotype"
members:
type: array
minItems: 1
uniqueItems: true
items:
oneOf:
- $ref: "#/definitions/Allele"
- $ref: "#/definitions/CURIE"
description: >-
List of Alleles, or references to Alleles, that comprise this Haplotype.
required: [ "members" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# UtilityVariation
Text:
description: >-
A free-text definition of variation.
additionalProperties: false
type: object
properties:
type:
type: string
const: "Text"
description: MUST be "Text"
definition:
type: string
description: >-
A textual representation of variation not representable by
other subclasses of Variation.
required: [ "definition" ]
VariationSet:
description: >-
An unconstrained set of Variation members.
type: object
additionalProperties: false
properties:
type:
type: string
const: "VariationSet"
description: MUST be "VariationSet"
members:
type: array
uniqueItems: true
items:
oneOf:
- $ref: "#/definitions/CURIE"
- $ref: "#/definitions/Variation"
description: >-
List of Variation objects or identifiers. Attribute is
required, but MAY be empty.
required: [ "members" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# SystemicVariation
AbsoluteCopyNumber:
additionalProperties: false
type: object
maturity: draft
prefix: VACN.v1
description: >-
The absolute count of discrete copies of a :ref:`MolecularVariation`,
:ref:`Feature`, :ref:`SequenceExpression`, or a :ref:`CURIE` reference
within a system (e.g. genome, cell, etc.).
properties:
type:
type: string
const: "AbsoluteCopyNumber"
description: >-
MUST be "AbsoluteCopyNumber"
subject:
oneOf:
- $ref: "#/definitions/SequenceLocation"
- $ref: "#/definitions/Feature"
description: >-
Subject of the Copy Number object
copies:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The integral number of copies of the subject in a system
allOf:
- if:
properties:
copies:
$ref: "#/definitions/Number"
then:
properties:
copies:
properties:
value:
minimum: 0
- if:
properties:
copies:
$ref: "#/definitions/IndefiniteRange"
then:
properties:
copies:
properties:
value:
minimum: 0
- if:
properties:
copies:
$ref: "#/definitions/DefiniteRange"
then:
properties:
copies:
properties:
min:
minimum: 0
max:
minimum: 0
required: [ "subject", "copies" ]
RelativeCopyNumber:
additionalProperties: false
type: object
maturity: draft
prefix: VRCN.v1
description: >-
The relative copies of a :ref:`MolecularVariation`,
:ref:`Feature`, :ref:`SequenceExpression`, or a :ref:`CURIE` reference
against an unspecified baseline in a system (e.g. genome, cell, etc.).
properties:
type:
type: string
const: "RelativeCopyNumber"
description: >-
MUST be "RelativeCopyNumber"
subject:
oneOf:
- $ref: "#/definitions/SequenceLocation"
- $ref: "#/definitions/Feature"
description: >-
Subject of the Copy Number object
relative_copy_class:
type: string
enum: [ "complete loss", "partial loss", "copy neutral", "low-level gain", "high-level gain" ]
description: >-
MUST be one of "complete loss", "partial loss", "copy neutral", "low-level gain" or "high-level gain".
required: [ "subject", "relative_copy_class" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Locations
Location.v2:
description: >-
A contiguous segment of a biological sequence.
oneOf:
- $ref: "#/definitions/CytogenomicLocation.v2"
- $ref: "#/definitions/SequenceLocation.v2"
heritable_properties:
id:
$ref: "#/definitions/CURIE"
description: >-
Location Id. MUST be unique within document.
type:
type: string
description: >-
The Location class type. MUST match child class type.
heritable_required: ["type"]
discriminator:
propertyName: type
SequenceLocation.v2:
additionalProperties: false
description: >-
A :ref:`Location` defined by an interval on a referenced :ref:`Sequence`.
type: object
maturity: draft
prefix: VSL.v2
properties:
type:
type: string
const: "SequenceLocation"
description: MUST be "SequenceLocation"
sequence_id:
$ref: "#/definitions/CURIE"
description: >-
A VRS :ref:`Computed Identifier <computed-identifiers>`
for the reference :ref:`Sequence`.
start:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The start coordinate or range of the interval.
The minimum value of this coordinate or range is 0.
MUST represent a coordinate or range less than the value of `end`.
end:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The end coordinate or range of the interval.
The minimum value of this coordinate or range is 0.
MUST represent a coordinate or range greater than the value of `start`.
required: [ "sequence_id", "start", "end" ]
CytogenomicLocation.v2:
additionalProperties: false
description: >-
A Location on a human chromosome defined by cytogenetic markers.
type: object
maturity: draft
prefix: VCL.v2
properties:
type:
type: string
const: "CytogenomicLocation"
description: MUST be "CytogenomicLocation"
species_id:
$ref: "#/definitions/CURIE"
default: "taxonomy:9606"
description: >-
:ref:`CURIE` representing a species from the
`NCBI species taxonomy <https://registry.identifiers.org/registry/taxonomy>`_.
Default: "taxonomy:9606" (human)
chr:
type: string
description: >-
The symbolic chromosome name. For humans, For humans,
chromosome names MUST be one of 1..22, X, Y (case-sensitive)
interval:
$ref: "#/definitions/CytobandInterval"
description: >-
The chromosome region defined by a :ref:`CytobandInterval`
required: [ "species_id", "chr", "interval" ]
# =============================================================================
# NON-IDENTIFIABLE TYPES
# These types have a `type` attribute
# =============================================================================
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Intervals
SequenceInterval:
description: >-
A SequenceInterval represents a span on a :ref:`Sequence`. Positions are
always represented by contiguous spans using interbase coordinates or
coordinate ranges.
type: object
additionalProperties: false
properties:
type:
type: string
const: "SequenceInterval"
description: MUST be "SequenceInterval"
start:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The start coordinate or range of the interval.
The minimum value of this coordinate or range is 0.
MUST represent a coordinate or range less than the value of `end`.
end:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The end coordinate or range of the interval.
The minimum value of this coordinate or range is 0.
MUST represent a coordinate or range greater than the value of `start`.
allOf:
- if:
properties:
start:
$ref: "#/definitions/Number"
then:
properties:
start:
properties:
value:
minimum: 0
- if:
properties:
start:
$ref: "#/definitions/IndefiniteRange"
then:
properties:
start:
properties:
value:
minimum: 0
- if:
properties:
start:
$ref: "#/definitions/DefiniteRange"
then:
properties:
start:
properties:
min:
minimum: 0
max:
minimum: 0
- if:
properties:
end:
$ref: "#/definitions/Number"
then:
properties:
end:
properties:
value:
minimum: 0
- if:
properties:
end:
$ref: "#/definitions/IndefiniteRange"
then:
properties:
end:
properties:
value:
minimum: 0
- if:
properties:
end:
$ref: "#/definitions/DefiniteRange"
then:
properties:
end:
properties:
min:
minimum: 0
max:
minimum: 0
required: [ "type", "start", "end" ]
# SimpleInterval has been moved to DEPRECATED section at bottom.
CytobandInterval:
description: >-
A contiguous span on a chromosome defined by cytoband features.
The span includes the constituent regions described by the start and
end cytobands, as well as any intervening regions.
type: object
additionalProperties: false
properties:
type:
type: string
const: "CytobandInterval"
description: MUST be "CytobandInterval"
start:
$ref: "#/definitions/HumanCytoband"
description: >-
The start cytoband region. MUST specify a region nearer the
terminal end (telomere) of the chromosome p-arm than `end`.
end:
$ref: "#/definitions/HumanCytoband"
description: >-
The start cytoband region. MUST specify a region nearer the
terminal end (telomere) of the chromosome q-arm than `start`.
example:
type: CytobandInterval
start: q22.2
end: q22.3
required: [ "type", "start", "end" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# SequenceExpression
SequenceExpression:
description: >-
An expression describing a :ref:`Sequence`.
oneOf:
- $ref: "#/definitions/LiteralSequenceExpression"
- $ref: "#/definitions/DerivedSequenceExpression"
- $ref: "#/definitions/RepeatedSequenceExpression"
- $ref: "#/definitions/ComposedSequenceExpression"
discriminator:
propertyName: type
heritable_properties:
type:
type: string
description: >-
The SequenceExpression class type. MUST match child class type.
heritable_required: ["type"]
LiteralSequenceExpression:
description: >-
An explicit expression of a Sequence.
type: object
additionalProperties: false
properties:
type:
type: string
const: "LiteralSequenceExpression"
description: MUST be "LiteralSequenceExpression"
sequence:
$ref: "#/definitions/Sequence"
description: the literal :ref:`Sequence` expressed
required: [ "sequence" ]
DerivedSequenceExpression:
description: >-
An approximate expression of a sequence that is derived from
a referenced sequence location. Use of this class
indicates that the derived sequence is *approximately equivalent*
to the reference indicated, and is typically used for describing
large regions in contexts where the use of an approximate sequence
is inconsequential.
type: object
additionalProperties: false
properties:
type:
type: string
const: "DerivedSequenceExpression"
description: MUST be "DerivedSequenceExpression"
location:
$ref: "#/definitions/SequenceLocation"
description: >-
The location from which the approximate sequence is derived
reverse_complement:
type: boolean
description: >-
A flag indicating if the expressed sequence is the reverse
complement of the sequence referred to by `location`
required: [ "location", "reverse_complement" ]
RepeatedSequenceExpression:
description: >-
An expression of a sequence comprised of a tandem repeating subsequence.
additionalProperties: false
type: object
properties:
type:
type: string
const: "RepeatedSequenceExpression"
description: MUST be "RepeatedSequenceExpression"
seq_expr:
oneOf:
- $ref: "#/definitions/LiteralSequenceExpression"
- $ref: "#/definitions/DerivedSequenceExpression"
description: >-
An expression of the repeating subsequence
count:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The count of repeated units, as an integer or inclusive range
allOf:
- if:
properties:
count:
$ref: "#/definitions/Number"
then:
properties:
count:
properties:
value:
minimum: 0
- if:
properties:
count:
$ref: "#/definitions/IndefiniteRange"
then:
properties:
count:
properties:
value:
minimum: 0
- if:
properties:
count:
$ref: "#/definitions/DefiniteRange"
then:
properties:
count:
properties:
min:
minimum: 0
max:
minimum: 0
required: [ "seq_expr", "count" ]
ComposedSequenceExpression:
description: >-
An expression of a sequence composed from multiple other
:ref:`Sequence Expressions<SequenceExpression>`
objects. MUST have at least one component that is not a
ref:`LiteralSequenceExpression`. CANNOT be composed from
nested composed sequence expressions.
additionalProperties: false
type: object
properties:
type:
type: string
const: "ComposedSequenceExpression"
description: MUST be "ComposedSequenceExpression"
components:
type: array
uniqueItems: true
minItems: 2
items:
oneOf:
- $ref: "#/definitions/LiteralSequenceExpression"
- $ref: "#/definitions/RepeatedSequenceExpression"
- $ref: "#/definitions/DerivedSequenceExpression"
contains:
oneOf:
- $ref: "#/definitions/RepeatedSequenceExpression"
- $ref: "#/definitions/DerivedSequenceExpression"
description: >-
An ordered list of :ref:`SequenceExpression` components
comprising the expression.
required: [ "components" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Feature
Feature:
description: >-
A named entity that can be mapped to a Location. Genes, protein domains,
exons, and chromosomes are some examples of common biological entities
that may be Features.
oneOf:
- $ref: "#/definitions/Gene"
discriminator:
propertyName: type
heritable_properties:
type:
type: string
description: >-
The Feature class type. MUST match child class type.
heritable_required: [ "type" ]
Gene:
description: >-
A reference to a Gene as defined by an authority. For human genes,
the use of `hgnc <https://registry.identifiers.org/registry/hgnc>`_
as the gene authority is RECOMMENDED.
type: object
additionalProperties: false
properties:
type:
type: string
const: "Gene"
description: MUST be "Gene"
gene_id:
$ref: "#/definitions/CURIE"
description: >-
A CURIE reference to a Gene concept
required: [ "gene_id" ]
# - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
# Numerics, Comparators, and Ranges
Number:
description: >-
A simple integer value as a VRS class.
type: object
additionalProperties: false
properties:
type:
type: string
const: "Number"
description: MUST be "Number"
value:
type: integer
description: The value represented by Number
required: [ "type", "value" ]
DefiniteRange:
description: >-
A bounded, inclusive range of numbers.
type: object
additionalProperties: false
properties:
type:
type: string
const: "DefiniteRange"
description: MUST be "DefiniteRange"
min:
type: number
description: The minimum value; inclusive
max:
type: number
description: The maximum value; inclusive
required: ["type", "min", "max"]
IndefiniteRange:
description: >-
A half-bounded range of numbers represented as a number bound and
associated comparator. The bound operator is interpreted as follows:
'>=' are all numbers greater than and including `value`, '<=' are all
numbers less than and including `value`.
type: object
additionalProperties: false
properties:
type:
type: string
const: "IndefiniteRange"
description: MUST be "IndefiniteRange"
value:
type: number
description: The bounded value; inclusive
comparator:
type: string
enum: [ "<=", ">=" ]
description: >-
MUST be one of "<=" or ">=", indicating which direction the range
is indefinite
required: [ "type", "value", "comparator" ]
# =============================================================================
# BASIC TYPES (STRUCTURES)
# These types do NOT have a VRS `type` attribute
# These types are used solely within other definitions.
# =============================================================================
CURIE:
additionalProperties: false
description: >-
A `W3C Compact URI <https://www.w3.org/TR/curie/>`_ formatted string.
A CURIE string has the structure ``prefix``:``reference``, as defined by
the W3C syntax.
type: string
pattern: '^\w[^:]*:.+$'
example: "ensembl:ENSG00000139618"
HumanCytoband:
additionalProperties: false
description: >-
A character string representing cytobands derived from the
*International System for Human Cytogenomic Nomenclature* (ISCN)
`guidelines <http://doi.org/10.1159/isbn.978-3-318-06861-0>`_.
type: string
pattern: '^cen|[pq](ter|([1-9][0-9]*(\.[1-9][0-9]*)?))$'
example: "q22.3"
Residue:
additionalProperties: false
description: >-
A character representing a specific residue (i.e., molecular species)
or groupings of these ("ambiguity codes"), using `one-letter IUPAC
abbreviations <https://en.wikipedia.org/wiki/International_Union_of_Pure_and_Applied_Chemistry#Amino_acid_and_nucleotide_base_codes>`_
for nucleic acids and amino acids.
type: string
pattern: '[A-Z*\-]'
Sequence:
additionalProperties: false
description: >-
A character string of :ref:`Residues <Residue>` that represents a biological
sequence using the conventional sequence order (5’-to-3’ for
nucleic acid sequences, and amino-to-carboxyl for amino acid
sequences). IUPAC ambiguity codes are permitted in Sequences.
type: string
pattern: '^[A-Z*\-]*$'
# =============================================================================
# DEPRECATED
# =============================================================================
Variation:
maturity: deprecated
description: >-
A representation of the state of one or more biomolecules.
oneOf:
- $ref: "#/definitions/MolecularVariation"
- $ref: "#/definitions/SystemicVariation"
- $ref: "#/definitions/UtilityVariation"
heritable_properties:
_id:
$ref: "#/definitions/CURIE"
description: >-
Variation Id. MUST be unique within document.
type:
type: string
description: >-
The Variation class type. MUST match child class type.
heritable_required: [ "type" ]
MolecularVariation:
maturity: deprecated
description: >-
A :ref:`variation` on a contiguous molecule.
oneOf:
- $ref: "#/definitions/Allele"
- $ref: "#/definitions/Haplotype"
discriminator:
propertyName: type
SystemicVariation:
maturity: deprecated
description: >-
A Variation of multiple molecules in the context of a system, e.g.
a genome, sample, or homologous chromosomes.
oneOf:
- $ref: "#/definitions/CopyNumber"
discriminator:
propertyName: type
Allele:
description: >-
The state of a molecule at a :ref:`Location`.
additionalProperties: false
type: object
maturity: deprecated
prefix: VA.v1
properties:
type:
type: string
const: "Allele"
description: >-
MUST be "Allele"
location:
oneOf:
- $ref: "#/definitions/CURIE"
- $ref: "#/definitions/Location"
description: >-
Where Allele is located
state:
oneOf:
- $ref: "#/definitions/SequenceExpression"
- $ref: "#/definitions/SequenceState" # DEPRECATED; remove in 2.0
description: >-
An expression of the sequence state
deprecated:
- $ref: "#/definitions/SequenceState"
required: [ "location", "state" ]
CopyNumber:
additionalProperties: false
type: object
maturity: deprecated
prefix: VCN.v1
description: >-
The absolute count of discrete copies of a :ref:`MolecularVariation`,
:ref:`Feature`, :ref:`SequenceExpression`, or a :ref:`CURIE` reference
within a system (e.g. genome, cell, etc.).
properties:
type:
type: string
const: "CopyNumber"
description: >-
MUST be "CopyNumber"
subject:
oneOf:
- $ref: "#/definitions/MolecularVariation"
- $ref: "#/definitions/Feature"
- $ref: "#/definitions/SequenceExpression"
- $ref: "#/definitions/CURIE"
description: >-
Subject of the Copy Number object
copies:
oneOf:
- $ref: "#/definitions/Number"
- $ref: "#/definitions/IndefiniteRange"
- $ref: "#/definitions/DefiniteRange"
description: >-
The integral number of copies of the subject in a system
allOf:
- if:
properties:
copies:
$ref: "#/definitions/Number"
then:
properties:
copies:
properties:
value:
minimum: 0
- if:
properties:
copies:
$ref: "#/definitions/IndefiniteRange"
then:
properties:
copies:
properties:
value:
minimum: 0
- if:
properties:
copies:
$ref: "#/definitions/DefiniteRange"
then:
properties:
copies:
properties:
min:
minimum: 0
max:
minimum: 0
required: [ "subject", "copies" ]
SequenceState:
maturity: deprecated
description: >-
DEPRECATED. A :ref:`Sequence` as a :ref:`State`. This is the State class
to use for representing "ref-alt" style variation, including SNVs, MNVs,
del, ins, and delins.
This class is deprecated. Use :ref:`LiteralSequenceExpression` instead.
additionalProperties: false
type: object
properties:
type:
type: string
const: "SequenceState"
description: MUST be "SequenceState"
sequence:
$ref: "#/definitions/Sequence"
description: A string of :ref:`Residues <Residue>`
example:
type: SequenceState
sequence: C
required: [ "type", "sequence" ]
SimpleInterval:
maturity: deprecated
description: >-
DEPRECATED: A SimpleInterval represents a span of sequence. Positions are
always represented by contiguous spans using interbase coordinates.
This class is deprecated. Use SequenceInterval instead.
additionalProperties: false
type: object
properties:
type:
type: string
const: "SimpleInterval"
description: MUST be "SimpleInterval"
start:
type: integer
description: The start coordinate
end:
type: integer
description: The end coordinate
example:
type: SimpleInterval
start: 11
end: 22
required: [ "type", "start", "end" ]
Location:
maturity: deprecated
description: >-
A contiguous segment of a biological sequence.
oneOf:
- $ref: "#/definitions/ChromosomeLocation"
- $ref: "#/definitions/SequenceLocation"
heritable_properties:
_id:
$ref: "#/definitions/CURIE"
description: >-
Location Id. MUST be unique within document.
type:
type: string
description: >-
The Location class type. MUST match child class type.
heritable_required: [ "type" ]
discriminator:
propertyName: type
ChromosomeLocation: