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API · Changes

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Add assertion api for v4 - started authored Apr 26, 2023 by Neethu Shah's avatar Neethu Shah
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API.md
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[[_TOC_]]
### Assertion API
### Assertion API for Richards et.al., 2015 ACMG specifications
Assertion API endpoint for computing variant pathogenicity given a set of evidence counts and assertion criteria. The specification used here is based on _Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology_. Richards _et.al_ (<https://pubmed.ncbi.nlm.nih.gov/25741868/>). For ClinGen VCEP specific assertion criteria refer the CSpec Registry - <https://cspec.genome.network>
......@@ -157,3 +157,5 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden
> }
> resp = await jsClient.doPost('/assertion', payload, reqConfig)
> ```
### Assertion API for v4 ClinGen specifications ( to be published )
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