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Single-Instrument Human Genome Sequencing

 
  August, 13 2009 14:52
your information resource in human molecular genetics
 
     
The complete genetic makeup of a person has been determined using only a single DNA sequencing machine. The result, published this week in Nature Biotechnology, demonstrates that human genome sequencing -- previously the exclusive domain of large sequencing centers -- is now within reach of an individual laboratory in a matter of weeks.

Several human genomes have been sequenced in the past year -- including that of the first Asian, the first African, and most recently the first Korean person. These genome sequences required concerted effort by many researchers using many sequencing instruments.

Stephen Quake and colleagues sequenced the genome of a Caucasian male using a single DNA sequencing instrument that required less sample preparation than other instruments. They identify instances of genetic variation that distinguish this individual from other sequenced individuals. This methodology and the information garnered could someday be used for personalized medicine since it allows for quicker sequencing.

Author contact:

Stephen Quake (Stanford University, CA, USA)
E-mail: quake@stanford.edu

Abstract available online.

(C) Nature Biotechnology press release.


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