A new genome sequencing process known as Single-Molecule, Real-Time sequencing (SMRT) has been developed and used to discover thousands of genetic variants and close numerous mapping gaps in the human genome. Through this sequencing method, it is possible to determine which genetic mutations are responsible for certain conditions, most of which have yet to be discovered. According to what scientists call the “missing heritability problem”, the genetic cause for only about half of the inherited conditions has been determined. However, the main reason for this problem is the fact that the standard methods of genome sequencing are not as precise as SMRT. These methods analyze millions segments of DNA that are approximately 100 bases long and use this information to create a genome map. By looking for the replacement of a single nucleotide base, known as a single-nucleotide polymorphism or SNP, genetic variations in the human genome can be identified.
Due to the limitations in technology, DNA sequences of 5,000 bases or more were unable to be sequenced using the standard methods of genome sequencing. However, through the use of SMRT, DNA sequences of more than 5,000 base pairs can be analyzed and sequenced. Therefore, through the use of this new sequencing technology, much more detailed genome maps can be created. A study was conducted upon a hydatidiform mole, which is when an egg that lacks the DNA of the mother is fertilized by a sperm and only carries one copy of each gene. Due to this, the search for genetic variation becomes easier when analyzing the hydatidiform genome. It was concluded that 26,079 segments differed from a reference human genome when using the SMRT method, 22,000 of which had never been reported before.
I thought this article was interesting because it shows how quickly genome research is advancing and how more detailed maps of the human genome can be used to determine the causes of hereditary conditions. In the future it may be possible to sequence a patient’s genome at the doctor’s office and tell him that the presence of particular SNPs or variations may make him more susceptible to a specific disease. Advances like these will make it easier to not only cure diseases and conditions that occur in the human body, but also prevent them before they arise.
This is a very interesting post in its discussion of a new method of genome sequencing. There certainly exists great importance in finding newer and better methods to sequence the genomes of various organisms, and specifically humans, for the purpose of research and development of new methods of prevention and treatment for pathological conditions. From this post, it seems as though single-molecule, real-time sequencing (SMRT) will be a very promising method of genome sequencing. Hopefully this method of DNA sequencing will prove effective in helping with diagnosis, prevention, and treatment for various conditions harmful to human health.
ReplyDeleteSMRT seems like it could be vary useful. As for anything getting information is key. When it comes using genetics and medicine, the more we know about the human genome, the better the advancements. I am a big proponent of genetic-specific medicine and treatments, I see it as the next big leap.
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