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

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 fut...

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Dettagli Bibliografici
Pubblicato in:Expert Rev Mol Diagn
Autori principali: Tayoun, Ahmad Abou, Krock, Bryan, Spinner, Nancy B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5040519/
https://ncbi.nlm.nih.gov/pubmed/27388938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/14737159.2016.1209411
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