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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.
Helman G, Bonkowsky JL, Vanderver A. Neurologist Comfort in the Use of Next-Generation Sequencing DiagnosticsCurrent State and Future Prospects. JAMA Neurol. 2016;73(6):621-622. doi:10.1001/jamaneurol.2016.0168