A genome in forty hours

14 August 2019

Interview with 

Ursula Arndt, illumina

NOVASEQ

illumina NovaSeq 6000 machine

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Today, genetics has reached heights Mendel could barely have dreamed of. Phil Sansom visited top gene sequencing company Illumina to speak to one of their researchers, Ursula Arndt. She showed Phil round one of their labs.

Phil - What’s this one?

Ursula - So this is a NextSeq. Your NextSeq can do one whole human genome in under forty hours. Which is pretty impressive

Phil - How long did they take to do the first one ever?

Ursula - Thirteen years? Right? So the first one, thirteen years, something like three billion dollars; and this one, less than forty hours and you have your whole human genome.

Phil - How is that possible?

Ursula - Honestly it's just a lot more time has gone into research, into development. NovaSeq could do 24 human genomes in one run, in forty hours.

Phil - Here’s how you use one of these incredible machines. You take a sample, smash it up, and separate out the DNA. You tag it so you know where each bit is, and you put it on a flow cell - a black tile that looks like a futuristic hard drive. Then you put it in the sequencer, it illuminates one DNA base at a time, and the computer records the sequence. Finally, the computer calculates how all the individual bits should fit back together, and voilà - the whole gene sequence is right there.

Gregor Mendel had to spend eight years carefully cross-breeding peas. Imagine what he would say if he saw how you could learn every single gene in a pea in forty hours.

Ursula - He would have had his mind blown. We are still impressed. I'm still impressed every time I think about the technology and the technological advances, and just seeing how far we've come in the past ten to fifteen years. If you look at what he did, he did fifteen plants at a time and then he had to wait for the next generation. And now within a week you could have the full dataset of those fifteen samples, and could be sitting on your computer and analysing and comparing them.

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