Wednesday, November 12, 2014

New DNA Sequencing Method

     Genetics has come a long way in the past few years, but a new discovery by Evan Eichler, a professor of genome sciences at the University of Washington, and his colleagues, have discovered many new genetic variants by using new genome sequencing technology. The technique is called single-molecule, real time DNA sequencing (SMRT). Researchers may now be able to identify the genes and genetic mutations in some portions of genome mapping that have eluded scientists. Ultimately, this advancement in genetic mapping may explain the underlying genetic causes of some diseases and conditions.
Example of SMRT sequencing for 5-hmC gene.

     Standard genome sequencing methods are able to map about half of the genome precisely enough to know the genes related to about half of all known heritable diseases. The current way of mapping DNA involves cutting out small snippets of the DNA sequence and overlapping the segments and analyzing the sequence to map the genome. Even though this methods is very accurate and scientists have been able to identify many variation this way, they have been unable to use this method to detect variation that are 50-5,000 bases in length, leaving this part of the genome unknown to everyone.

      SMRT technology allowed Eichler and his colleagues to sequence and read DNA segments that are longer than 5,000 bases, something that cannot be done with standard gene sequencing technology. This technique allows researcher to create a much higher resolution and more well-structured map which leads to being able to detect more structure variation in base pairs. The researchers tested their new approach by doing the genome sequence of a mole. They were able to identify and sequence 26,079 segments that were different from the human genome and 22,000 of these variants had not been reported before. These results show that there is a lot of variation in the human genome that researchers can currently be missing. They were also able to identify 160 genome gaps that were not known before, close 50 gaps, and narrowed 40 others.

      I think that this is a very big advancement in DNA sequencing that will prove be extremely useful in the years to come. Being to to be more specific and uncover hidden genetic variants that can help identify the causes of certain diseases will be extremely helpful to the public, researchers, and doctors. The identification of more genetic variants will help us achieve and even better understanding of the human genome and will have very important, valuable implications for the future of disease diagnosis and prevention.

Original Article :New technology closes many human genome mapping gaps that have long resisted sequencing

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