Article
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children.
Pediatrics - 1 Jan 2016
Thiffault Isabelle, Lantos John
Abstract excerpt
In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and...
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