Next generation sequencing in genetic diagnostics

Published on July 1, 2014   25 min

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Other Talks in the Series: The Genetic Basis of Neurological Disorders

Hello. My name is Dr. Alan Pittman, from the Institute of Neurology. Today I'm going to be talking about next generation sequencing in genetic diagnostics.
So just to give you a quick outline of today's lecture, first we'll be talking about Sanger sequencing methods. I'm then going to move on to next generation sequencing technologies. I'm going to talk about target enrichment, how we analyze next generation sequencing data. And then I'm going to talk about applications of this technology in genetic diagnostics.
First up, Sanger sequencing.
Sanger sequencing. This technique was first invented by Fred Sanger back in 1977. It's a cycle sequencing technique based on the principle of full color chain terminators. This method is extremely accurate but very slow.
The Human Genome Project. This project began back in 1990 and took 13 years to complete. The 3 billion base pair long genome was all sequenced with the Sanger method. The reason this was undertaken was to drive genetics research. We can now achieve this amount of sequencing in as little time as one day with the new technologies I will be talking to you about.
Moving on to next generation sequencing technologies.
The next generation of DNA sequencing. So recently we have moved on from Sanger sequencing to a more high-throughput approach, the biggest change being now we sequence DNA molecules in parallel rather than one sequence at a time. This has been driven by new technological advances which I will be speaking about through the remainder of the lecture.

Next generation sequencing in genetic diagnostics

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