Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM 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
Main Authors: Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Format: Article
Language:English
Published: MDPI AG 2018-05-01
Series:Genes
Subjects:
inherited diseases
mutations
gene panel
targeted NGS
AmpliSeq Inherited Disease Panel
Saudi Human Genome Program database
Online Access:http://www.mdpi.com/2073-4425/9/5/267

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http://www.mdpi.com/2073-4425/9/5/267

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