ga4gh / ga4gh/phenopacket-schema

Schema: Genetic Interpretations for unaffected individuals

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Dominant language
Java
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Description

For individuals unaffected by disease, there is no way to provide any genomic data about them.

The real-life situation where this might be relevant is if a dataset contains genomic information about people with a certain condition, and their family members. Perhaps this is relevant for diseases with varying levels of penetrance for a specific variant. Currently, as far as I am aware, this sort of dataset can't be fully converted into Phenopackets.

The most sensible suggestion I can think of is to add an extra field in the Diagnosis field of Interpretation which states whether the individual is affected or unaffected by the disease. That would keep all genomic variants tied to diseases.

Just an idea!

Contributor guide

Open the contributing guide

Research direction

No files or tests are named. Start by locating the Interpretation and Diagnosis schema definitions and reviewing existing examples for affected status. Done requires an agreed schema change that represents unaffected individuals while keeping their genomic variants tied to diseases.

Written by the indexing model from the issue text.

Assessment

Domain
backend-api-design
Issue type
Feature
Difficulty
5/5
Estimated time
Over a week
Activity status
Stale
Clarity
Needs clarification
Newbie friendliness
25/100

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