So you sequenced your genome. Now what?

It can be quicker and easier to sequence a genome than it is to analyze the resulting data. What do those As, Ts, Gs, and Cs mean for disease risks? Two California startups break the bottleneck.
Written by Janet Fang, Contributor

In the last decade, a string of advances have made it relatively fast and cheap to sequence a human genome. But what are you supposed to do with all those data?

With about 20,000 full genomes already sequenced, it becomes a GATTACA alphabet soup... in many cases, it’s quicker and easier to sequence a genome than it is to analyze the resulting data. The trick is to turn those As, Ts, Gs, and Cs into a manageable description of disease risks and other genetic predispositions.

Two startups – DNAnexus and Bina Technologies – are helping to unravel the meaning of those letters, pushing personalized medicine forward. Technology Review reports.

For Mountain View, California-based DNAnexus, it’s about cloud computing. The startup positions itself between sequencing facilities and the researchers, doctors, and companies who need to manage and glean information from sequenced genomes.

"The more and more data you produce faster and cheaper, the more the bottleneck – which used to be the DNA sequencing itself – is actually now the data management," says cofounder Andreas Sundquist.

He sees the company as an instant online genomics center, offering immediate access to vast stores of DNA data. After you upload yours to DNAnexus, they’re stored in your cloud-based account, and you can use DNAnexus’s analysis tools to make sense of it all.

Sundquist hopes DNAnexus will bring together lots of different genetic databases, which for now tend to exist on their own – aiding research efforts, drug discoveries, and development of diagnostic tests.

In the next several years, the number of genomes sequenced will rise to a million as the price and time required continue to fall (right now, the process takes about a day and costs roughly $4,000).

All that data could amount to more than an exabyte of data – one billion gigabytes – and hundreds of thousands of central processing units will be needed to analyze it all.

And that brings up another matter. While several companies use the cloud to process raw data into a genetic profile, the data files generated by sequencing machines are so massive, uploading them becomes an issue.

So Redwood City, California-based Bina Technologies has a slightly different strategy: divide and conquer.

They give their customers a data-crunching machine that will turn heaps of raw sequence into easily shared genetic profiles. Those profiles are then uploaded to their cloud-hosted site for management, sharing, and aggregation.

Specifically, the company plans to sell its "Bina Box" preloaded with software that can reduce the 300 gigabytes or so of raw data from a human genome into a few hundred megabytes of genetic information. The Bina Box, explains founder Bani Asadi, does the initial heavy lifting, making data small enough to send to the cloud.

Eventually, what these startups are doing could help researchers find better treatments and identify genetic links to diseases.

In 10 years, Sundquist believes, everyone in the developed world will have their genome sequenced as part of their medical records. He adds: "I'm sure the iPhone 10 will have a DNA-sequencing module."

[Via Technology Review here and here]

Image by joyosity via Flickr

This post was originally published on Smartplanet.com

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