New Research Analysis Platform Enables UK Biobank To Exponentially Increase Size and Scale of World’s Most Comprehensive Biomedical Database

As the scope and data demands of the UK Biobank biomedical database gets bigger, we’re helping UK Biobank to meet its audacious ambitions. 

The latest improvement is a new cloud-based Research Analysis Platform (RAP), which will exponentially increase the scale and accessibility of the world’s most comprehensive biomedical database. Watch the short explainer video to learn more. 

Since 2006, UK Biobank has been on a mission to unleash the imaginations of the global research community to go further and improve human health. This project is another example of their dedication to democratizing access to this rich, multi-dimensional data resource.  

DNAnexus shares this vision.  We understand that delivering on UK Biobank’s promise of improving human health requires overcoming the challenges around scale and diversity of datasets, the need for integrated multimodal analytics and comprehensive analysis tools, stringent controls on data security and regulatory compliance, and the critical need for collaboration globally and across institutional firewalls.

That’s why we partnered with UK Biobank to build a scalable, secure, and collaborative Research Analysis Platform to accelerate the speed and scale of health-related research.

Enabled by DNAnexus technology and powered by Amazon Web Services (AWS), RAP provides approved researchers with the ability to access and analyze the 11 petabytes of data in the UK Biobank database from anywhere in the world. 

It also enables easier collaboration between researchers within the same team, or on the other side of the planet. Users can leverage a valuable library of tools for analyzing genomic and clinical data. 

And as the UK Biobank grows, the platform is designed to grow with it, a vital requirement as the resource is expected to surpass 40 petabytes of data by 2025. To put that number into perspective, it would take over a century of continuous viewing to consume 40 petabyte’s worth of high definition 4k movies!

We are proud to partner with UK Biobank on this landmark initiative that combines our leading biomedical informatics platform and insight tools with UK Biobank’s genomics and clinical datasets. This global collaboration brings us one step closer to accomplishing our vision of democratizing data access to drive innovations in research that profoundly impact patient lives.   

Learn more about the new UK Biobank Research Analysis Platform. If you aren’t an approved researcher, read more about UK Biobank and apply for access here.

Better Together: Regeneron & HLI Share Their Experiences with DNAnexus & AWS

DNAnexus and AWS Webinar Series

Polymerase and primers. VCF and TBI. DNAnexus and AWS. Some things are just better together.

At DNAnexus, we are big believers in collaboration — among scientists, between industry and academia, and amid complementary technologies. Our platforms enable researchers to work together across geographical boundaries, and to bring together various types of multi-omics data spanning single cell expression, population genomics, microbiome, and epigenetics. 

To do so, we work closely with Amazon Web Services to leverage the scalability of the AWS cloud and incorporate the latest advances in analytics and knowledge management. Life science organizations of all sizes and disciplines choose DNAnexus and AWS to help navigate the complexity and scale of their biomedical research to meet their immediate unique business needs, as well as long-term growth plans.

Join us this month as we hear from two businesses that harnessed the power of DNAnexus and AWS to greatly expand their operations.

Whole Genome Sequencing for Healthy Individuals: Providing Genomics-Based Guidelines for the Optimization of Care and Lifestyle

Tuesday, September 21, 2021

1 p.m. Eastern Daylight Time

San Diego based Human Longevity, Inc., is hoping to revolutionize precision health care with a suite of tests, services and care that help preempt disease before symptoms arise. Its Health Nucleus Clinic aggregates more than 150 gigabytes of data from whole-genome sequencing, whole-body magnetic resonance imaging, metabolomics, comprehensive blood biomarkers, and other modalities to deliver a complete, personalized picture of health.

In this webinar, Wayne Delport will discuss the development of its whole-genome sequencing product used by Health Nucleus physicians to provide personalized care based on assessment of risk. He will cover the technical and regulatory challenges posed by delivery of this product and how HLI used the DNAnexus Titan Platform on AWS for everything from data ingestion, data analysis, and data delivery, enabling the company to streamline their genomics infrastructure and focus on product improvements.

Register here.

Post-scale Genetics on the Cloud: How Discovery Drives Infrastructure

Wednesday, September 29, 2021

1 p.m. Eastern Daylight Time

In 2014, the Regeneron Genetics Center demonstrated how cloud infrastructure can rapidly transform a drug discovery program by enabling the generation, delivery and analysis of genetic results at unprecedented speeds. Six years and two orders of magnitude later, scale is no longer measured in numbers of samples but in the diversity of the RGC’s collaborator network, the successful programs of industry partners, and the unrealized opportunities of the world’s largest genetic resource.

Find out how RGC and DNAnexus support a growing hybrid industry/academic community, including managing hundreds of collaborators with a full spectrum of use cases, ensuring participant confidentiality through unparalleled international compliance, protecting partner IP through autonomous research and billing environments, and driving the value of genetic data through cost-efficient sharing of genetic data, tools, and results.

Register here.

Want to learn more about how DNAnexus and AWS work together to support multi-omics projects in the Cloud? Download our latest white paper: Multi-Omics in the Cloud.

How Myriad Genetics is Powering AI & Machine Learning Advancements in Precision Medicine

Myriad AI & Machine Learning

For nearly 30 years, Myriad Genetics has been at the forefront of precision medicine, transforming people’s lives with pioneering molecular diagnostic tests, such as the industry leading myRisk hereditary cancer test for genes including BRCA1/BRCA2 that enable clinicians to understand the role genes play in the onset, progression, and treatment of human diseases. The company employs a number of proprietary technologies to power its products and they do this all at extreme scale for more than one million patients annually.

As part of its ongoing commitment to innovation, Myriad continues to invest in advanced AI and Machine Learning analytical methods to deliver the latest in next-generation technology in clinical validity and utility. Specifically, the company invests in three main categories:

1. Automating data intensive tasks for speed and accuracy

Typical bioinformatics pipeline development involves setting up infrastructure, building a computational process, and analyzing the results. When adjustments are made, this process repeats as many times as necessary until the pipeline has been properly optimized and validated. With complex and data intensive analyses, this process can consume many resources and take a lot of computation time. Myriad and DNAnexus partnered to develop Smart Reuse, a new framework that enables scientists to focus on the specific portions of the pipeline that have been updated. As a result, Myriad achieved a dramatic reduction in time as pipeline development went from weeks to hours, and in some cases they saw up to 100x acceleration. You can learn more about Smart Reuse from our blog where Jeffrey Tratner, Director of Bioinformatics Software Engineering at Myriad, presents at DNAnexus Connect.

2. Scaling human interaction and clinical interpretation

The second category focuses on a classic business problem of how to scale human interaction and clinical interpretation. Approximately 32 million women in the US qualify for hereditary cancer testing due to family history, but less than 5% of the eligible population get tested. The healthcare system can be notoriously complex in understanding whether you qualify for testing or treatment options, getting reliable cost estimates, and navigating payor reimbursement. Typically, this process requires a lot of human interaction. Myriad uses a combination of rule-based decision trees and machine learning to make recommendations for what the likely out of pocket costs will be for the patient. And because the disease is often based on family history, Myriad has developed tools for patient education where they can walk through a workflow that explains what conditions are represented in that person’s family tree and if he or she is a good candidate for genetic testing.

3. Discovering novel indications and biomarkers for new products

Lastly, Myriad harnesses AI for discovery, improving its current tests, and expanding its portfolio. Myriad is able to leverage its wealth of genomic and phenotypic information to better predict cancer risk. For example, how can you use more signals in the gene to modify the risk of traditional cancer genes? With the BRCA1/BRCA2 genes it’s well known that patients have a high risk in developing breast cancer. However, there are other classes of genes that are moderately penetrant (risk of 30-50%) and it’s less obvious what you should do medically. Myriad has discovered additional polygenic risk indicators across the genome that can modify the likelihood of developing breast cancer for moderately penetrant genes, either making the gene more likely or less likely to cause cancer. This allows those of high risk to take proactive steps to care for their health.

When used correctly, AI and machine learning can provide a competitive advantage. However, Myriad understood that they needed a secure environment for R&D scientists to leverage these powerful and computationally intensive analytical methods, which require the latest GPU instances in the cloud for deep learning frameworks like tensorflow. DNAnexus Titan solves this issue, providing a collaborative platform that automatically tracks data provenance to ensure reproducibility.  Scientists around the world are using the platform to spin up the latest GPU instances for a reasonable amount of time, leveraging Amazon Web Services (AWS).

To learn more about how Myriad is powering AI/ML advancements in precision medicine, you can listen to Kevin Haas, SVP of Technology at Myriad, speak at the AWS Healthcare & Life Sciences Web Day. Visit our website to learn more about DNAnexus’ solutions for clinical diagnostics providers.