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clingen-data-model / clingen-interpretation

Allele (variant) interpretation model and API for ClinGen
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base structure for gene dosage #241

Closed tnavatar closed 3 years ago

tnavatar commented 6 years ago

In subject, predicate, form, we would state a gene dosage assertion as:

Subject: SHANK3 Predicate: with reduced dosage, is pathogenic for Object: Phelan-McDermid Syndrome

vs

genetic state 1 Variation Class Subject: SHANK3 Predicate: has dosage Object: 1 | reduced

stmt 2: Assertion: Subject: genetic state 1 Predicate: is pathogenic for Object: Phelan-McDermid Syndrome

https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=SHANK3