DNAnexus has teamed up with Saphetor, a leading variant analysis company, to build a sample-in, report-out genomic analysis solution. Saphetor annotates and classifies genetic variants from next-generation sequencing (NGS) data to help clinicians quickly and accurately diagnose disease to make faster, more precise treatment decisions. Saphetor’s technology is now available on the DNAnexus cloud-based platform.
Saphetor has built a powerful genome interpretation engine by integrating more than 30 public and licensed databases containing genotype, phenotype, variant, drug, and clinical trial information. Automated annotation ensures a comprehensive understanding of variant significance and implication for disease. Each variant is annotated with gene and functional position, protein functional impact, population allele frequencies, and pathogenicity prediction scores. Using the DNAnexus-Saphetor integration, researchers globally can conduct secure, whole-genome analysis leveraging Saphetor’s databases containing 33 billion variant annotation points.
Data from the DNAnexus Platform is exported to Saphetor via a secure API, enabling customers to take advantage of this comprehensive analysis solution. Saphetor’s powerful user interface allows customers to interactively browse and use powerful filters on the annotated and classified variant list in an intuitive fashion. Click on the image below to see a sample of the variant analysis interface.
Together with the scalability and high-performance computing power of the DNAnexus Platform, and Saphetor’s variant browsing tools, customers can quickly move from NGS data analysis to interpretation. Researchers can discover which variants have a functional impact on disease in the hopes of accelerating the implementation of precision medicine. We are excited about our collaboration with Saphetor to offer a secure and scalable environment to power an end-to-end analytical solution for genomic biomarker discovery and interpretation.
Interested in trying out Saphetor’s technology on DNAnexus? Get in touch with a member of our Science Team.