Article
Next-generation sequencing: Application of a novel platform to analyze atypical iron disorders.
Journal of hepatology - 1 Nov 2015
McDonald Cameron J, Ostini Lesa, Wallace Daniel F, Lyons Alison, Crawford Darrell H G, Subramaniam V Nathan
Abstract excerpt
The development of targeted next-generation sequencing (NGS) applications now promises to be a clinically viable option for the diagnosis of rare disorders. This approach is proving to have significant utility where standardized testing has failed to identify the underlying molecular basis of disease. We have developed a unique targeted NGS panel for the systematic sequence-based analysis of atypical iron...
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