Validation of Ion Torrent(TM) Inherited Disease Panel with the PGM(TM) Sequencing Platform for Rapid and Comprehensive Mutation Detection

Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many gene...

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Bibliographic Details
Published in:Genes (Basel)
Main Authors: Mustafa, Abeer E., Faquih, Tariq, Baz, Batoul, Kattan, Rana, Al-Issa, Abdulelah, Tahir, Asma I., Imtiaz, Faiqa, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen, Alowain, Mohammed, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Abouelhoda, Mohamed, Al-Mubarak, Bashayer R., Al Tassan, Nada A.
Format: Artigo
Language:Inglês
Published: MDPI 2018
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5977207/
https://ncbi.nlm.nih.gov/pubmed/29789446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes9050267
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