DNAnexus expands with Microsoft Azure Cloud Platform

At DNAnexus we focus on enabling scientific research and discovery by removing barriers such as data compliance and security concerns, allowing our global community of customers to focus on innovation, not logistics. DNAnexus is the only cloud-based translational informatics platform that offers regional services in China, North America, Europe, and Asia Pacific, and now, we are pleased to offer our customers a second region in Europe, Microsoft Azure’s West Europe.

Data generated in the EU is subject to strict European privacy regulations. DNAnexus has adopted policies and implemented new procedures that comply with European regulations. Consequently, DNAnexus users based in the European countries can upload genomic data from individuals in those countries to DNAnexus in compliance with European data privacy laws and regulations (e.g. GDPR) and stay in compliance with regulations regarding data localization.

The additional region in Europe will address the needs of the growing European BioPharma and Precision Medicine customers, allowing them to seamlessly access the Azure cloud platform via DNAnexus while complying with European regulations, including the GDPR and other data privacy regulations. Organizations will be able to collaborate with research centers in the EU and across the globe to analyze biomedical data on one common platform, while still maintaining compliance with European regulations.  The DNAnexus Platform allows data owners the ability to set up compliance policies and enforce local/regional restrictions around their data, eliminating the confusion and potential risks of collaborating globally.

Other security features enable researchers to log, monitor, and block any unauthorized data access and prevent users from downloading or copying data outside of their regional boundaries. These features, in addition to industry-leading data management, workflow and data provenance tracking features of the DNAnexus Platform, provide an environment to work with large-scale biomedical and genomics data that complies with EU GDPR and other data privacy regulations, enabling customers to focus on scientific discovery – not compliance.

You can find out more about DNAnexus expansion and offerings at Bio-IT World. Visit DNAnexus in booth #310 and learn more about our conference activities on our blog. You can also stop by our demo session at Microsoft booth #446 on Wednesday, May 16th at 3:30pm.

Partnership with St. Jude and Microsoft – Let’s talk about it at HIMSS 2018

We’re partnering in an exciting new collaboration with St. Jude Children’s Research Hospital and Microsoft to analyze and store half a petabyte of pediatric cancer genomic data. This collaboration will accelerate discoveries and treatments to cure pediatric cancer and other rare diseases by giving researchers and clinicians the ability to collaborate globally and enabling the rapid generation and analysis of genomic data.

DNAnexus, deployed on Microsoft Azure, provides a secure and agile ecosystem in the cloud while simultaneously eliminating security, storage and speed limitations – all of which will enable St. Jude researchers to focus on complex problems on a collaborative, global scale.  

DNAnexus’ strength comes from its agile co-development process. We partner with our customers to solve new big data problems that are continuously evolving. Our team works closely with the St. Jude and Microsoft teams to determine the specific requirements and translated it into tailored solutions. From kick-off meeting to production deployment, its a seamless process that helps our customers and collaborators achieve their goals, no matter how ambitious.

With our secure, cloud-based infrastructure and complimentary tools, researchers will be able to integrate a multitude of disparate datasets, develop their own tools, and collaborate in a secure environment enhancing the sharing of data and accelerate discoveries.

You can read more on how we’ve joined forces to fuel scientific discovery in a joint press release from St. Jude here and Microsoft has written a great blog post where you can learn more about Microsoft Genomics Service and the partnership.

We’ll be at this year’s HIMSS 2018 Conference and available at Microsoft’s booth #3832 in Las Vegas, Nevada from March 5th – March 9th, as part of the larger Microsoft patient journey providing solutions in enabling more precise treatment and better patient outcomes.

Visit us at Microsoft booth #3832 and schedule a meeting with our team – email us at himss18@dnanexus.com.

Dot: An Interactive Dot Plot Viewer for Comparative Genomics

Author: Maria Nattestad, Scientific Visualization Lead

 

 

 

Introduction

Next week, DNAnexus will be at the Plant and Animal Genome conference (PAG) in San Diego (booth 431). As part of an ongoing effort to expand our visualization capabilities, we will present an open-source tool called Dot that helps scientists visualize genome-genome alignments through a rich, interactive dot plot.

In addition to its scientific contribution, Dot encourages community development of new visualization tools by providing a template that can be used for new visualization tools in other areas of bioinformatics. This would allow bioinformaticians to focus on the bioinformatics and visualization without needing to master web programming intricacies such as reading data from local and remote servers, which is all handled by Dot’s modular and reusable inner workings.

Importance of Dot Plots

Constructing a genome assembly is fundamental to studying the biology of a species. In recent years, advances in long-read sequencing and scaffolding technologies have led to unprecedented quality and quantity of genome assemblies. Better reference genomes contribute to better gene annotations, evolutionary understanding, and biotech opportunities.

Comparing new assemblies to existing genomes of related species is crucial to understanding differences between organisms across the tree of life. Genome assemblies are never perfect and always have to be evaluated critically by comparing against other assemblies or reference genomes, whether of the same or a closely related species. Comparative genomics is also how assemblies of two species’ genomes can be compared and contrasted to look for features that represent functional differences or inform the study of their evolution.

The classic method for visualizing genome-genome alignments is the dot plot, which provides an excellent overview of alignments from the perspective of both genomes. Dot plots place the reference genome on one axis and the query genome (that is aligned against the reference) on the other axis. Alignments between the two genomes are placed according to their coordinates on both genomes. Whereas genome browsers (such as IGV and the UCSC Genome Browser) plot data in one dimension on one genome, dot plots use two dimensions to show alignments in two genomes’ coordinates spaces simultaneously. This is necessary when representing large genome alignment data where the query coordinates matter just as much as the reference coordinates for a particular alignment.

However, dot plots have barely changed in the past decade and are still generated from the command-line as static images, limiting detailed investigation. We decided to tackle this problem as an open-source science project at DNAnexus.

Introducing Dot

Here we present Dot, an interactive dot plot viewer that allows genome scientists to visualize genome-genome alignments in order to evaluate new assemblies and perform exploratory comparative genomics.

Dot supports the output of MUMmer’s nucmer aligner the most commonly used software method for aligning genome assemblies. A quick script called DotPrep.py converts the delta file to a more streamlined coordinates file with an index that enables Dot to read in more alignments in certain regions on demand.

Interactivity and features

Dot adds a number of useful features on top of the classic dot plot concept. The index enables a quick plot of an overview that includes the longest 1000 alignments. From here, users can zoom in to look at particular regions and load all the alignments for regions of interest.

In addition to showing alignments, Dot allows scientists to load annotations for either or both genomes to show additional context  (e.g. understanding how sequence differences map to gene differences). Annotation tracks are a common feature of one-dimensional genome browsers, but to translate this concept to the two-dimensional dot plot, we enable annotation tracks on both axes. This is a major benefit of Dot that makes it possible to compare gene annotations visually alongside the alignments of the DNA sequences.

Moreover, users can jump to the same region of the reference genome in the UCSC Genome Browser to quickly see additional context for a region of interest. This allows scientists to explore how known repetitive elements in the reference genome could potentially affect assembly quality in specific regions.

Details for developers

By leveraging D3 and canvas in JavaScript, Dot combines the benefits of interactivity with scalability, enabling scientists to explore large genomes. The UI on the right side panel is built using an open-source SuperUI.js [https://github.com/marianattestad/superui] plugin, and the input handling and basic page navigation is set up through a special VisToolTemplate [https://github.com/MariaNattestad/VisToolTemplate] plugin we developed to enable others to create new visualization tools more easily. We encourage developers to utilize and build on Dot and these open-source projects to create their own visualization tools. Dot is very modular and can be used as a template to build new visualization tools. The template handles complex and necessary components like reading input data files from various sources, thereby letting developers focus only on the visualization itself.

Dot is open source

Dot is free to use online at [https://dnanexus.github.io/dot/] and open source at [https://github.com/dnanexus/dot]. For DNAnexus users, there is a package available among the featured projects with (1) an applet for running MUMmer’s nucmer aligner that includes DotPrep.py, (2) a shortcut  to Dot to send files from DNAnexus quickly, and (3) example data and results.