INTERPRETATION PIPELINE


CURATION

YouGene provides Variant Classification as a Service (VCaaS)TM and curates novel variants discovered by customers. The variants are deposited in a master variant and co-occurrence database accessed by a subscription fee or royalty.  

 

 


REPORTING

The database is interoperable with Laboratory Information Management Systems (LIMs) and Electronic Medical Records (EMRs) for on-demand testing.  Reports can be delivered quickly and accurately with automated systems. Sign out by board certified pathologist is performed when required.

 

 


Our semi-automated, machine-optimized pipeline uses ACMG guidelines to classify variants using co-occurrence, segregation analysis, general population frequency, amino acid conservation, Grantham score, SIFT, Polyphen-2.2.2 (HumVar), and protein domain data. Contact us to schedule a demo.  

CLASSIFICATION

 
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