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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific Meeting
1College of Pharmacy and Institute of Human Genetics, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA. oetti001@umn.edu
Abstract:
The annual scientific meeting of the Human Genome Variation Society (HGVS) was held on the 20th of October, 2009, in Honolulu, Hawaii. The theme of this meeting was the "Impact of Next Generation Sequencing." Presenters spoke on issues ranging from advances in the technology of large-scale genome sequencing to how this information can be analyzed to uncover genetic variants associated with disease. Many of the challenges resulting from the implementation of these new technologies were presented, but possible solutions, or at least paths to the solutions, were also given. With the combined efforts of investigators using next-generation sequencing to help understand the impact of genetic variants on disease, the use of the personal genome in medicine will soon become a reality.
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