Sequence Data: The View from JP Morgan

Last week, Andrew Lee, Vice President of Strategic Operations, and I attended the JP Morgan Healthcare Conference, an annual investor conference here in San Francisco that brings some 25,000 people to the city. The big news this year came from Life Technologies and Illumina, which both announced platforms that will be capable of sequencing an entire human genome in a day. Life Tech in particular noted that its same-day genome sequence will cost $1,000 in reagents — effectively putting an end to a race that began 10 years ago, when scientists first started seriously competing to achieve the $1,000 genome.

With this price point achieved, we expect people to sequence genomes at a much faster clip than ever before. Indeed, a survey from GenomeWeb and Mizuho Securities found that scientists anticipate that sequencing data will increase 32 percent this year over 2011, and increase another 38 percent next year compared to this year. That’s exciting on the data analysis front: As the volume of DNA data grows exponentially, it’s even more important to have a scalable platform to manage, store, and analyze that data securely and efficiently. The GenomeWeb/Mizuho survey also found that people expect to spend more on informatics in 2012 than they did in 2011.

After all, mainstream genome sequencing won’t be possible until the analysis costs come down by orders of magnitude. Even with so much attention on cutting the price tag for sequencing technologies, that didn’t translate to matching improvements for data costs. The race to the $1,000 genome may be over, but as it turns out, that was just the first leg of a relay. Now the baton has been passed to the data management and analysis folks, and it’s our turn to run as fast as we can.

Preserving and Enhancing an Important Community Resource

Today, DNAnexus is pleased to announce the launch of our hosted SRA site!

The DNAnexus SRA site is a hosted version of NCBI’s Sequence Read Archive (SRA). As the most comprehensive archive of publicly available next-generation sequencing data, the SRA is an important resource to researchers around the world. The SRA remains the single best resource of useful sequence data from research initiatives such as the 1,000 Genomes Project and institutions like the Broad Institute, Washington University, and the Wellcome Trust Sanger Institute.

DNAnexus has created a mirrored site of this resource by teaming up with Google, to provide access to all publicly accessible datasets for specific studies, experiments, samples, and runs that are currently available via the NCBI SRA website. (Note: Currently these data do not include the analysis data and the Trace Archive repository.)

The New Interface

In addition to maintaining free access to the SRA database, we have taken this opportunity to improve the experience of using and accessing these data. The new web-based user interface was built using the latest cloud-based technologies and genomic data standards. Central to this effort were the many conversations we had with researchers about how they search and interact with data of this type. Their feedback was the basis of our development plan, which drew on our own experience in developing web-based sequence data analysis solutions as well as Google’s big data expertise.

Searching and Browsing

Our main goal in developing the new interface was to vastly enhance the way you find data of interest, understand sample-to-project associations, and download files for subsequent analysis in your tool of choice.

The most significant difference you will notice is the new web-based searching and browsing interface. The new search tool allows you to simultaneously look across multiple data annotations and keywords for objects of interest that are embedded in the SRA database. Each search returns a ranked list of results with relevant metadata for easy follow-on browsing.

We have developed a number of features to simplify how you can scan results and quickly narrow in on relevant data. We are particularly excited about the links to published data. PubMed references now permit users to link directly to journals for descriptions of samples, experiments, studies, or runs as they appeared in the referenced publication.

Once you have identified samples of interest, you can easily download them. In addition to the SRA standard format, we have also made it possible to download these data in the more popular FASTQ format.

For more details on the sra.dnanexus.com functionality and how the website works, please visit the SRA FAQ.

Transforming Data into Real Insights Using DNAnexus

Since the SRA primarily contains raw sequence data, the ability to import them into a platform such as DNAnexus is essential for further analyses. For example, by uploading your results into DNAnexus you can access tools that will map your data to a reference genome so you can better understand data quality, a critical step in determining whether to move forward with the data. DNAnexus also allows you to analyze and visualize these data as a standalone dataset or in conjunction with other data already in the system, using our interactive web-based Genome Browser.

Analyze and Visualize SRA Data for Free

For the next 30 days, you can import SRA data directly into DNAnexus at no cost. If you already have a DNAnexus account, simply log in and import your SRA data. If you are not yet a user of DNAnexus, you can sign up for a free trial account and import your data. Once logged in, you can perform mapping, RNA-seq, ChIP-seq, variant analysis, and data visualization on your SRA data for a total of two years.

Special note for our users from academic institutions… We have just reduced the standard academic pricing by half!

Taking DNAnexus to the next level

Today we’re proud to announce the addition of two partners to DNAnexus: Google Ventures and TPG Biotech, the best big data investor and the best life sciences investor. Together with previous investors First Round Capital, SoftTech VC, K9 Ventures, and Felicis VC, we’ve raised $15 million in capital in this round to continue building our company and vision for the genomics revolution.

We also welcome the addition of two individuals to our board: Geoff Duyk, partner and managing director at TPG Biotech, and Krishna Yeshwant, partner at Google Ventures, whose insight and experience we value deeply. We consider Google Ventures and TPG Biotech to be extensions of our team, providing unrivaled industry reach and access to top technical expertise and infrastructure.

How will this affect the company? For starters, we’ve moved our headquarters to Mountain View and grown the company substantially, and continue to recruit the absolute best individuals to build our team. A big emphasis is on identifying the best software engineers and computer scientists, people who appreciate working on complex, big data problems, and want to make a meaningful impact on the world. Intrigued? Know someone who might be a fit? Take a look at our openings, or refer someone you know for a unique referral bonus.

Next, we’re investing in a number of efforts with the goal to bring together data and tools to allow the medical and biotech communities to extract meaning from sequencing data. One such effort is being announced today: a commitment to continue providing access to one of the most comprehensive archives of publicly available sequence data: the Sequence Read Archive. You can read more in the blog post below.

Congratulations to the DNAnexus team and everyone involved. We see this as a huge opportunity to pursue our mission: to unlock the potential of DNA-based medicine and biotechnology by creating scalable and collaborative data technologies.