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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential

7 Jul 2016

Abstract excerpt

INTRODUCTION: The last two decades have witnessed revolutionary changes in clinical diagnostics, fueled by the Human Genome Project and advances in high throughput, Next Generation Sequencing (NGS). We review the current state of sequencing-based pediatric diagnostics, associated challenges, and future prospects. AREAS COVERED: We present an overview of genetic disease in children, review the technical aspects of...

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PMID: 27388938
DOI: 10.1080/14737159.2016.1209411

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