Skip to Content

A Bioengineer Sequences His Genome

The first human genome sequenced using single molecule sequencing technology.
August 11, 2009

Stephen Quake, a bioengineer at Stanford University, has sequenced his genome–the first human genome generated using single molecule sequencing technology, according to results published in the current issue of Nature Biotechnology. Quake joins a handful of others with public genome sequences, including genomics’ luminaries Craig Venter and James Watson, and several anonymous subjects.

Quake, who was named one of Technology Review’s top young innovators in 2002, cofounded Helicos BioSciences in 2003. Quake used the company’s commercial sequencer, called the HelioScope, to read his DNA. Unlike other advanced sequencing technologies currently in use, which simultaneously read multiple copies of the same piece of DNA, thus boosting the signal, the HelioScope can read the sequence from a single molecule. Quake says this approach will allow for faster and cheaper sequencing.

According to an article in Bio-IT World:

Apart from being a major milestone in single-molecule sequencing (SMS), Quake says his group’s paper points to the democratization of genomic research. “This is the first case you haven’t needed a genome center to sequence a human genome,” Quake told Bio-IT World on the eve of his landmark publication. “What we’ve shown is that you can do it with a pretty modest set of resources–a single professor’s lab, one person doing the sequencing, one instrument, lower cost. Those are all order-of-magnitude improvements over what’s been published recently.” (See accompanying interview, “The Single Life: Stephen Quake Q&A.”)

Quake wrote in an opinion piece that appeared in the New York Times in March that he was inspired to sequence his DNA in part to try to understand his children’s peanut allergies:

I became fascinated with trying to find out whether there is useful information in my genome that might affect my lifestyle choices, or explain why my children have such vicious allergic reactions to peanuts. So, having helped invent an ultra-high-throughput sequencing machine, I used it to sequence my genome.

The sequencing itself was amazingly easy–it took a single machine operator two weeks to get tenfold coverage of my genome (it turns out that for technical reasons it is not sufficient to sequence the equivalent of one genome of DNA; one must over-sample by 10- to 30-fold in order to be sure there aren’t too many gaps). The actual analysis of the data has taken several more weeks as we have built up our computer infrastructure, but it is essentially complete. The hardest part is to interpret what it means.

For the nitty gritty on Quake’s genome analysis, see Daniel MacArthur’s blog on the paper. MacArthur says that, “while this paper is a promising taste of things to come, the genome sequence itself is in many ways a disappointment.”

Keep Reading

Most Popular

individual aging affects covid outcomes concept
individual aging affects covid outcomes concept

Anti-aging drugs are being tested as a way to treat covid

Drugs that rejuvenate our immune systems and make us biologically younger could help protect us from the disease’s worst effects.

close up of baby with a bottle
close up of baby with a bottle

The baby formula shortage has birthed a shady online marketplace

Desperate parents just want to feed their babies. They’re having to contend with misinformation, price gouging, and scams along the way.

"Olive Garden" NFTs concept
"Olive Garden" NFTs concept

I tried to buy an Olive Garden NFT. All I got was heartburn.

Our newest issue spells out what you need to know about the dizzying world of digital money.

Stay connected

Illustration by Rose WongIllustration by Rose Wong

Get the latest updates from
MIT Technology Review

Discover special offers, top stories, upcoming events, and more.

Thank you for submitting your email!

Explore more newsletters

It looks like something went wrong.

We’re having trouble saving your preferences. Try refreshing this page and updating them one more time. If you continue to get this message, reach out to us at customer-service@technologyreview.com with a list of newsletters you’d like to receive.