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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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Bibliografiske detaljer
Udgivet i:Expert Rev Mol Diagn
Main Authors: Tayoun, Ahmad Abou, Krock, Bryan, Spinner, Nancy B.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang: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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