... | @@ -2,11 +2,13 @@ |
... | @@ -2,11 +2,13 @@ |
|
|
|
|
|
### Assertion API for Richards et.al., 2015 ACMG specifications
|
|
### Assertion API for Richards et.al., 2015 ACMG specifications
|
|
|
|
|
|
|
|
#### Introduction
|
|
|
|
|
|
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>
|
|
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>
|
|
|
|
|
|
**Summary of Sequence Variant Interpretation Reasoner service route which interprets a variant pathogenicity assertion from Evidence and** [**Criteria Specification**](https://cspec.genome.network)
|
|
**Summary of Sequence Variant Interpretation Reasoner service route which interprets a variant pathogenicity assertion from Evidence and** [**Criteria Specification**](https://cspec.genome.network)
|
|
|
|
|
|
1. Request to the engine service _assertion_ route.
|
|
#### GET Request to the engine service _assertion_ route.
|
|
|
|
|
|
> **Route** for the assertion engine is - <https://cspec.genome.network/cspec/eng/svi/assertion>. This is a GET route with a payload (see next).
|
|
> **Route** for the assertion engine is - <https://cspec.genome.network/cspec/eng/svi/assertion>. This is a GET route with a payload (see next).
|
|
|
|
|
... | @@ -144,7 +146,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden |
... | @@ -144,7 +146,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden |
|
> }
|
|
> }
|
|
> ```
|
|
> ```
|
|
|
|
|
|
> POST Method Alternative
|
|
#### POST Request to the engine service _assertion_ route.
|
|
>
|
|
>
|
|
> ```plaintext
|
|
> ```plaintext
|
|
> const SimpleJsonReq = require( "@brl/brl-gb/client/simple/simpleJsonReq" ).SimpleJsonReq
|
|
> const SimpleJsonReq = require( "@brl/brl-gb/client/simple/simpleJsonReq" ).SimpleJsonReq
|
... | | ... | |