Thursday, June 19, 2014

Next Gen Sequencing Applications

Next-Generation Sequencing: Methodology and Application

Next-generation sequencing (NGS), also known as high-throughput sequencing, is the catch-all term used to describe a number of different modern sequencing technologies including:
  • Illumina (Solexa) sequencing
  • Roche 454 sequencing
  • Ion torrent: Proton / PGM sequencing
  • SOLiD sequencing
These recent technologies allow us to sequence DNA and RNA much more quickly and cheaply than the previously used Sanger sequencing, and as such have revolutionised the study of genomics and molecular biology.

Everyone knows by now that the applications of NGS or Nex-Generation Sequencing, has already proved worthy of it's time, effort and applications. Most recently, in the news:

Next-gen sequencing IDs rare infection, saves boy's life

A 14 year old boys life was saved thanks to NGS or Next Gen Sequencing.

The sample came from a 14-year-old Wisconsin boy with dangerous swelling in his brain. His doctors, not sure that he'd survive the weekend, sent the sample with the thin hope that Chiu's team might figure out what was making him sick, and solve a months-long mystery.
In just two days, using experimental genomic sequencing technology, Chiu had an answer: leptospira. It's a rare bacterial infection - so rare that it would eventually take the U.S. Centers for Disease Control four months to confirm the diagnosis - that fortunately for the boy was very treatable.

 To solve the mystery, Chiu's team used a diagnostic tool known as "next-generation sequencing," which allows scientists to very quickly read and analyze the genetic makeup of an organism. Their rapid diagnosis of Joshua was one of the first examples of using the sequencing technology in a setting outside a lab.

And, scientists say, it may be the first time the tool has saved a life. The case was written up in a paper published this month in the New England Journal of Medicine.

"I feel the diagnosis could not have been made in this boy's case without next-generation sequencing. It definitely wouldn't have been in time," said Chiu, the paper's senior author and head of the viral diagnostics laboratory at UCSF.

You can read the whole article here