clingen-data-model / genegraph

Presents an RDF triplestore of gene information using GraphQL APIs
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Evaluate and estimate changes necessary to support new GCI Case-control data #734

Closed toneillbroad closed 1 year ago

toneillbroad commented 1 year ago

Received the following email message from Gloria:

Tristan, Phil, Terry,

Not sure how much work is needed for downstream to support this change. Please let us know and we can plan on testing and releasing to prod.

Here is the related changes in message data that gets sent downstream. gene_validity_events – no change gene_validity – no change (just Case-Control contradicts evidence is evaluated now) gene_validity_raw – Case-Control evidence has two (old & new) score objects that need to be supported.

Old score object only has “score” attribute which means “scoreStatus” is “Score” so points are counted New score object has additional attributes “scoreStatus” and “explanation” if given. This is the same as individual/experimental score object where “scoreStatus” can be “Score”, “Review”, or “Contradicts”.

Please let me know if you have any comments/questions.

Action items:

toneillbroad commented 1 year ago

GCI Test system MYH14 – nonsyndromic genetic deafness – Autosomal dominant inheritance shows case control table with extra fields (Score Status, Points, and Explanation).

On Stage, KCNH2 - long QT syndrome show a curation with case control data missing the new fields.

toneillbroad commented 1 year ago

Feature brach: gci_case_control_changes