DNAnexus and Saphetor Collaborate for Seamless Integration of Tertiary Analysis Solution

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.

The New UI: Sleeker. Modern. Intuitive.

We are pleased to announce a design refresh of the DNAnexus web user interface! The new, modern interface incorporates visual enhancements that make the most common tasks and interactions intuitive and delightful, without changing the underlying functions that power your biomedical research. Explore some of the updates below, highlighted in yellow.

Project List

Your list of projects and files has a sleeker layout and more intuitive filtering system. Looking for your Bookmarks? The Bookmarks tab has been renamed to Saved Filters so you can quickly find and access the projects you’re looking for.

Project Page

Managing workflows has never been easier. The main actions are listed using clear, modernized icons to help you know exactly which steps to take next. Each file also has a context menu. Clicking on these three dots will help you accomplish actions such as view, copy, delete, and download one item at a time. You can still apply bulk action to all the files by clicking the icons at the top of the page.

App Library

The available apps are displayed in a simplified and visually appealing manner. The inputs and outputs of each tool are clearly shown, and finding the appropriate app for your analysis is now easier than ever. 

Billing Information

Your user settings have been reorganized to show your billing information in one distinct location. This will help you easily review your budget, spend, and remaining funds.

We hope these changes make using the DNAnexus web interface an intuitive and seamless experience. If you have any questions about the updates, let us know at support@dnanexus.com.

DNAnexus: Powering AZ’s 2-Million Genome Translational Vision

AstraZenecaThe volume of biomedical data available for analysis is increasing at an exponential rate, yet translating this information into insight remains both a formidable challenge and a remarkable opportunity. The demonstrable success already achieved by the Regeneron Genetics Center (RGC) and Geisinger Health System in integrating genetic and phenotypic data to inform drug development and benefit patients points to the potential of this approach, and highlights what impassioned champions with a good plan and the right platform can accomplish. (RGC/Geisinger publications, powered by DNAnexus, are discussed here and here.)

The success and promise of the RGC/Geisinger collaboration has prompted an expansion of this vision – including at Regeneron itself, which, in partnership with GSK and the UK Biobank, has announced plans to analyze the genetic data of another 500,000 individuals, powered again by the DNAnexus Platform.

These studies, aimed to catalyze the discovery and development of consequential new medicines, are motivated in part by what translational scientist Robert Plenge (formerly of Merck, now at Celgene) has termed “causal human biology” – the ability to use rare, highly informative genetic variants to better understand the staggering complexity of human biology and human disease. (Plenge has discussed this concept in Science Translational Medicine, in a fantastic Timmerman Report post reprinted in his must-read Plenge Gen blog, and on the Tech Tonics podcast.)

Plenge – and the industry, more generally – is hopeful that leveraging causal human biology can help pharma companies select better targets and more intelligently prosecute them, hopefully resulting in dramatically improved success in phase 2/3 trials; the high failure rates in these expensive mid- and late-stage studies are one of the main reasons drug development is so costly.

In this context, DNAnexus is especially excited to announce today its partnership with Astrazeneca in a particularly ambitious genetics project, the AstraZeneca Centre for Genomic Research, which was established by AZ in 2016 “to transform drug discovery and development across its entire research and development pipeline.

The vision, has been nicely articulated by Menelas Pangalos, Executive Vice President, Innovative Medicines & Early Development at AstraZeneca:

“Using the power of genomics is the foundation of our ambition to develop the most innovative and impactful treatments for patients. With the advent of next generation sequencing and the increased sophistication of data analysis, the time is now right to immerse ourselves fully in the international genomics community through these pioneering collaborations and through the creation of our own genome centre. We will leverage information from up to 2 million genome sequences, including over 500,000 from our own clinical trials, to drive drug discovery and development across all our therapeutic areas. Genomics will be fundamental to our laboratory research, our clinical trials and the launch of our medicines for patients.”

The requirements of this project – including, in particular, the ability to (a) manage high volumes of genomic data in a secure and compliant fashion; (b) facilitate the integration of genetic data with other data types, and (c) enable global collaboration around these data – were a natural fit for the DNAnexus translational informatics platform.

The DNAnexus team is tremendously exciting by the opportunity to power the efforts of visionary industry leaders such as Regeneron and AstraZeneca in translating the promise of precision medicine and data analytics into discrete novel medicines that can meaningfully improve the lives of patients.