MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--DNAnexus, the global leader in genome informatics and data management, today announced the availability of the DeepVariant bioinformatics tool on the DNAnexus Platform. Developed by researchers at Google, DeepVariant is a deep learning technology that uses deep neural networks to call genetic variants from next-generation sequencing data. An earlier version of DeepVariant won the PrecisionFDA Truth Challenge Award for overall accuracy in calling variants in individual genomes. This process is essential to determine what makes an individual genetically unique, and is essential in helping scientists locate genes associated with disease. The release from Google marks the first time this deep learning method has been made fully available to the community.
"The tools of machine intelligence promise to increase the productivity of our life sciences discovery and development pipelines, and to improve the efficacy and efficiency of healthcare delivery," said Dr. Vikram (Vik) Bajaj, Managing Director at Foresite Capital Management and former Chief Scientific Officer at Verily Life Sciences. "DeepVariant is one of the first tools to deliver on that promise by making the critical first step to more accurately identify genetic differences among individuals. By making a reference implementation broadly accessible, I believe Google and DNAnexus will accelerate a growing body of research that requires high quality genomic information."
DeepVariant applies the Inception TensorFlow framework, which was originally developed to perform image classification. This represents the information as images like what a clinician would look at from a genome browser and then learns the signatures of variant and non-variate images. By cross-applying this technology in only a short development time, DeepVariant can outperform methods that developers have been working on for a decade. The technology was initially described in a December 2016 pre-publication paper hosted on bioRxiv (doi: 10.1101/092890).
"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 Richard Daly, CEO of DNAnexus. "We are pleased to offer DNAnexus customers integrated access to DeepVariant, a significant advance in the state-of-the-art."
DNAnexus is providing early access to DeepVariant through an initial Pilot Program. To request access to DeepVariant on DNAnexus please sign up here. For more information about DeepVariant and the DNAnexus Platform, please visit our blog.
DNAnexus combines expertise in computing and bioinformatics creating the global network for genomics, operating in North America, Europe, Asia-Pacific (including China), South America, and Africa. The secure, scalable, and collaborative DNAnexus Platform helps thousands of researchers and clinicians across a spectrum of industries – biopharmaceutical, bioagricultural, sequencing services, clinical diagnostics, government, and research consortia – accelerate global genomics programs. For more information on DNAnexus, please visit www.dnanexus.com or follow the company @DNAnexus.