Documentation

Evidence profiles

How versioned evidence profiles define reusable rule sets.

Evidence profiles

An evidence profile is a reusable checklist of rules. It defines what must be checked before QuantBayes measures evidence sufficiency.

Profile fields

A profile should include:

name
profileUid
version
visibility
domain
standard
standardVersion
description
scope
maintainer
sourceUrl
rules

Rule fields

Each rule should include:

ruleOrder
ruleUid
name
description
evidenceMeaning
problemMeaning
notAvailableMeaning

Visibility

Allowed visibility values:

community
private

Public repository profiles must use:

community

community means a reviewed profile is suitable for reuse by the public, including signed-in users.

private means a user-owned profile visible only to its owner. Private profiles do not belong in this public repository.

Standard

Public profiles should use:

SGA-QEM-1.0

Rule semantics

Rules are authored as failure checks.

TRUE  = problem found
FALSE = evidence present
NA    = not available

This convention keeps the matrix mapping stable:

TRUE  -> 0
FALSE -> 1
NA    -> 0

Identifiers

Profile UIDs and rule UIDs should use lowercase letters, numbers, and underscores.

Examples:

wgs_rare_disease_proband_v1
proband_genotype_invalid
population_frequency_incompatible

Versioning

Profiles are versioned because a result is only interpretable under the exact profile used to create it. Changing rule wording, rule meaning, or rule order should create a new version.

Community review

Community profiles should be clear, scoped, public, and free of private data. They should define the evidence-present, problem-found, and not-available states for every rule.