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.
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.