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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977207/
https://www.ncbi.nlm.nih.gov/pubmed/29789446
http://dx.doi.org/10.3390/genes9050267