Next Generation DNA Sequencing Shakes Up Genotype/Phenotype Correlation, Disease Discoveries

With the ability to use next generation sequencing technology, researchers have a broadened understanding of the association of genetic changes and disease causation to a much greater resolution, driving new discoveries, said clinical geneticists from Baylor College of Medicine in Houston and the University of Montreal in Canada in a perspective published in the New England Journal of Medicine.

Authors Dr. Brendan Lee and James T. Lu of Baylor, and Dr. Phillippe Campeau of the University of Montreal, discuss the impact on the increased use of these technologies — such as whole genome and whole exome sequencing which give insight into a person’s complete DNA (whole genome) and all protein coding genes (exome) — on the expanding collection of diseases with different genetic lesions.

As the cost of next generation sequencing continues to drop, and is used more often, scientists are observing at much greater resolution and sensitivity how subtle gene changes may be associated with unique disease presentations, even in previously undiagnosed forms of disease.

Read the full summary here: http://www.sciencedaily.com/releases/2014/08/140813174229.htm

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