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APPLICATIONS OF NEXT-GENERATION SEQUENCING

Next generation sequencing helps in sequencing vast quantities of genomic data.

This technology has a plethora of applications, such as:

1. diagnosing and understanding complex diseases;


2. whole-genome sequencing;
3. analysis of epigenetic modifications;
4. mitochondrial sequencing;
5. transcriptome sequencing understanding how altered expression of genetic variants
affects an organism; and
6. Exome sequencing mutations in the exome are thought to contain up to 90% of
mutations in the human genome, which leads to disease.
a. DNA techniques have been used to identify and isolate genes responsible for
certain diseases, and provide the correct copy of the defective gene known
as gene therapy.
b. A large focus area in gene therapy is cancer treatment one potential method
would be to introduce an antisense RNA (which specifically prevents the
synthesis of a targeted protein) to the oncogene, which is triggered to form
tumorous cells.
c. Another method is named suicide gene therapy which introduces genes to
kill cancer cells selectively. Many genetic codes for toxic proteins and
enzymes are known, and introduction of these genes into tumor cells would
result in cell death. The difficulty in this method is to ensure a very precise
delivery system to prevent killing healthy cells.
These methods are made possible by sequencing to analyze tumor genomes,
allowing medical experts to tailor chemotherapy and other cancer treatments
more effectively to their patients unique genetic composition, revolutionizing
the diagnostic stages of personalized medicine.

As the cost of DNA sequencing goes down, it will become more widespread, which brings a
number of issues. Sequencing produces huge volumes of data, and there are many
computational challenges associated with processing and storing the data. There are also
ethical issues, such as the ownership of an individual's DNA when the DNA is sequenced.
DNA sequencing data must be stored securely, since there are concerns that insurance
groups, mortgage brokers and employers may use this data to modify insurance quotes or
distinguish between candidates. Sequencing may also help to find out whether an individual
has an increased risk to a particular disease, but whether the patient is informed or if there is a
cure for the disease is another issue altogether.