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Next Generation Neurology
June 2016

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects

Author Affiliations
  • 1Department of Neurology, Children's National Medical Center, Washington, DC
  • 2Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC
  • 3Department of Pediatrics, University of Utah School of Medicine, Salt Lake City
 

Copyright 2016 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA Neurol. 2016;73(6):621-622. doi:10.1001/jamaneurol.2016.0168

Rare diseases are an increasingly recognized source of health problems worldwide, affecting personal and community health and a creating a substantial financial burden. Although rare individually, rare disorders as a group are common, affecting 350 million people worldwide, and approximately 1 in 10 individuals in the United States.1 Next-generation sequencing (NGS)–based approaches have improved the recognition of rare diseases and facilitated diagnostic yield of their testing.

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