Study Result composition — worked example

va-spec-source.yaml

The same structure as the class diagram, filled in with illustrative example data for a gnomAD population-frequency result. Field names are the same; values here are example data, not type declarations.

TU
Method
name: "gnomAD QC Pipeline v3"
methodType: "gnomAD QC pipeline"
specifiedBy
0..1
TU
«abstract»
StudyResult
focus: "HRAS:c.173C>T"
sourceDataSet: "gnomAD v3.1.2"
focus is the variant or entity under study; profiles (e.g. Cohort Allele Frequency Study Result) add their own dedicated group fields, not shown here.
contributions
0..m
TU
Contribution
contributor: "gnomAD Consortium"
activityType: "data generation"
date: 2023-11-01
reportedIn
0..m
TU
Document
title: "gnomAD v3.1.2 notes"
urls: "gnomad.org"
sourceDataSet 0..1
TU
DataSet
name: "gnomAD v3.1.2"
version: "3.1.2"
releaseDate: 2021-11-01
«abstract» = open base class TU Trial Use