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Merge pull request ga4gh-beacon#1 from kellrott/genotype-to-phenotype
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Emphasising the association in the class that connects the genotype and the phenotype
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cmungall committed Nov 20, 2014
2 parents 1a096ef + 08f47ce commit b975064
Showing 1 changed file with 11 additions and 10 deletions.
21 changes: 11 additions & 10 deletions src/main/resources/avro/wip/genotypephenotype.avdl
Original file line number Diff line number Diff line change
@@ -1,6 +1,6 @@
@namespace("org.ga4gh")
/**
This protocol defines genotype to phenotype relationships
This protocol defines genotype to phenotype relationships
*/
protocol GenotypePhenotype {

Expand All @@ -11,21 +11,23 @@ import idl "metadata.avdl";
/**
An association between a variant or variant set and a phenotype
*/
record VariantPhenotype {
record VariantPhenotypeAssociation {
string id;

/**
Evidence evidenceSet;

/**
The set of variants of the organism that bears the phenotype.
If the goal is to associate a single variant, then a singleton VariantSet is used
If the goal is to associate a single variant, then a singleton VariantSet is used
*/
VariantSet variantSet;

/**
/**
The phenotypic component of this association.
Note that we delegate this to a separate record to allow us the flexibility to composition of phenotype
associations with records that are not variant sets - for example, diseases.
*/
PhenotypeAssociation phenotypeAssociation;
Phenotype phenotypeAssociation;

}

Expand All @@ -34,7 +36,7 @@ An association to a phenotype and related information.
This record is intended primarily to be used in conjunction with variants, but the record can
also be composed with other kinds of entities such as diseases
*/
record PhenotypeAssociation {
record Phenotype {

/** HPO is recommended */
OntologyTerm phenotype;
Expand All @@ -49,13 +51,12 @@ record PhenotypeAssociation {
/** A textual description of the phenotype. This is used to complement the structured phenotype description in the phenotype field */
union { null, string } description = null;

/**
/**
the environmental context in which the phenotype arises.
multiple contexts can be specified - these are assumed to all hold together
*/
array<EnvironmentContext> environmentalContexts;

array<Evidence> evidenceSet;

}

Expand All @@ -75,7 +76,7 @@ record EnvironmentalContext {
}

/**
Evidence for the phenotype association.
Evidence for the phenotype association.
*/
record Evidence {

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