Study Result Profiles

Study Results represent collections of data items about a single variant from a particular study or analysis (e.g. 1-55051215-G-GA (GRCh38) from the gnomAD allele frequency dataset) - along with provenance and other supporting metadata.

Study Result Profiles are defined as concrete subclasses of the Core Study Result class - each tailored to represent data from a particular type of study or analysis.

Below are the Study Result Profiles currently defined as part of the VA-Spec, and available for adoption or extension by implementations.

Cohort Allele Frequency Study Result

Note

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the maturity-model.

Computational Definition

A StudyResult that reports measures related to the frequency of an Allele in a cohort

Information Model

Some CohortAlleleFrequencyStudyResult attributes are inherited from Study Result.

Field	Flags	Type	Limits	Description
id		string	0..1	The ‘logical’ identifier of the Entity in the system of record, e.g. a UUID. This ‘id’ is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
name		string	0..1	A primary name for the entity.
description		string	0..1	A free-text description of the Entity.
aliases	⋮	string	0..m	Alternative name(s) for the Entity.
extensions	⋮	Extension	0..m	A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model.
specifiedBy		Method | iriReference	0..1	A specification that describes all or part of the process that led to creation of the Information Entity
contributions	↓	Contribution	0..m	Specific actions taken by an Agent toward the creation, modification, validation, or deprecation of an Information Entity.
reportedIn	⋮	Document | iriReference	0..m	A document in which the the Information Entity is reported.
ancillaryResults	D	object	0..1	An object in which implementers can define custom fields to capture additional results derived from analysis of primary data items captured in standard attributes in the main body of the Study Result. e.g. in a Cohort Allele Frequency Study Result, this maybe a grpMaxFAF95 calculation, or homozygote/heterozygote calls derived from analyzing raw allele count data.
qualityMeasures	D	object	0..1	An object in which implementers can define custom fields to capture metadata about the quality/provenance of the primary data items captured in standard attributes in the main body of the Study Result. e.g. a sequencing coverage metric in a Cohort Allele Frequency Study Result.
type		string	1..1	MUST be “CohortAlleleFrequencyStudyResult”.
sourceDataSet		Data Set	0..1	The dataset from which the CohortAlleleFrequencyStudyResult was reported.
focusAllele		Allele | iriReference	1..1	The Allele for which frequency results are reported.
focusAlleleCount		integer	1..1	The number of occurrences of the focusAllele in the cohort.
locusAlleleCount		integer	1..1	The number of occurrences of all alleles at the locus in the cohort.
focusAlleleFrequency		number	1..1	The frequency of the focusAllele in the cohort.
cohort		Study Group	1..1	The cohort from which the frequency was derived.
subCohortFrequency	⋮	CohortAlleleFrequencyStudyResult	0..m	A list of CohortAlleleFrequency objects describing subcohorts of the cohort currently being described. Subcohorts can be further subdivided into more subcohorts. This enables, for example, the description of different ancestry groups and sexes among those ancestry groups.

Artifacts

• Cohort Allele Frequency Study Result Source Yaml

• Cohort Allele Frequency Study Result Json Schema

Use Cases and Implementations

This Study Result profile was defined to support gnomAD data in an early implementation for the GREGoR consortium. It provides a format to represent and share the diverse types of allele frequency data, quality measures, and derived ancillary results this resource provides. The model may be generalized in the future to support broader use cases, as new requirements and implementers emerge.

Experimental Variant Functional Impact Study Result

Note

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the maturity-model.

Computational Definition

A StudyResult that reports a functional impact score from a variant functional assay or study.

Information Model

Some ExperimentalVariantFunctionalImpactStudyResult attributes are inherited from Study Result.

Field	Flags	Type	Limits	Description
id		string	0..1	The ‘logical’ identifier of the Entity in the system of record, e.g. a UUID. This ‘id’ is unique within a given system, but may or may not be globally unique outside the system. It is used within a system to reference an object from another.
name		string	0..1	A primary name for the entity.
description		string	0..1	A free-text description of the Entity.
aliases	⋮	string	0..m	Alternative name(s) for the Entity.
extensions	⋮	Extension	0..m	A list of extensions to the Entity, that allow for capture of information not directly supported by elements defined in the model.
contributions	↓	Contribution	0..m	Specific actions taken by an Agent toward the creation, modification, validation, or deprecation of an Information Entity.
reportedIn	⋮	Document | iriReference	0..m	A document in which the the Information Entity is reported.
ancillaryResults	D	object	0..1	An object in which implementers can define custom fields to capture additional results derived from analysis of primary data items captured in standard attributes in the main body of the Study Result. e.g. in a Cohort Allele Frequency Study Result, this maybe a grpMaxFAF95 calculation, or homozygote/heterozygote calls derived from analyzing raw allele count data.
qualityMeasures	D	object	0..1	An object in which implementers can define custom fields to capture metadata about the quality/provenance of the primary data items captured in standard attributes in the main body of the Study Result. e.g. a sequencing coverage metric in a Cohort Allele Frequency Study Result.
type		string	1..1	MUST be “ExperimentalVariantFunctionalImpactStudyResult”.
focusVariant		MolecularVariation | iriReference	1..1	The genetic variant for which a functional impact score is generated.
functionalImpactScore		number	0..1	The score of the variant impact measured in the assay or study.
specifiedBy		Method | iriReference	0..1	The assay that was performed to generate the reported functional impact score.
sourceDataSet		Data Set	0..1	The full data set that provided the reported the functional impact score.

Artifacts

• Experimental Variant Functional Impact Study Result Source Yaml

• Experimental Variant Functional Impact Study Result Json Schema

Use Cases and Implementations

This Study Result profile was defined to support an early MAVE-DB implementation of the VA-Spec, as a format to represent high-throughput, quantitative multiplex-assay based functional impact data. This is a very unique type of assay and functional impact data, and the model may be generalized in the future to support broader use cases, as new requirements and implementers emerge.