Evidence Line Data Structure

A class-level view of the Evidence Line-based structure in VA-Spec data. Italicized text in each class exemplifies the kind of information it may capture — here a stand-alone Evidence Line representing a moderate argument supporting the pathogenicity of a variant, based on gnomAD allele-frequency data.

Evidence Line

e.g. pop-freq data provides a moderate argument supporting the possible fact that:

Proposition

'HRAS:c.173C>T is causal for Costello Syndrome'

InformationEntity

«Study Result»

e.g. pop-freq study data: alleleCount=341, alleleFreq=0.002, …

Method

(e.g. interpretation guidelines, experimental protocols)

Contribution

(who, when, and how an agent contributed to an artifact)

Document

(e.g. publications, database records)

Agent

(e.g. persons, organizations, software)

central artifact (Information Entity) provenance class arrow points from a class to the object it references; label shows the attribute & cardinality