CHICAGO (GenomeWeb) – DNAnexus has integrated Google's DeepVariant variant calling tool into its core genome informatics platform for pilot testing.
Mountain View, California-based DNAnexus said that it is making DeepVariant — which Google released as an open-source product last week — available to a small number of its customers through the DNAnexus platform.
"Deep learning-based data analysis tools have tremendous potential in driving further advances in our understanding of disease biomarkers. DNAnexus is able to host scalable architecture to support these complex technologies," said DNAnexus CEO Richard Daly said in a statement issued today.
DNAnexus actually discussed the launch of the DeepVariant pilot in a Dec. 5 blog post. The company is opening the pilot to customers by request only, but promised "broader access to the tool in the coming months."
DNAnexus revealed in the blog post that it had been quietly evaluating an earlier version of DeepVariant. "Experts have been refining approaches for the problem of SNP and indel calling in NGS data for a decade. Through thoughtful application of a general deep learning framework, the authors of DeepVariant have managed to exceed the accuracy of traditional methods in only a few years time," wrote Andrew Carroll, DNAnexus vice president of science, and Naina Thangaraj, a bioinformatician at the firm.