Next Article in Journal
The Present and Future of Whole Genome Sequencing (WGS) and Whole Metagenome Sequencing (WMS) for Surveillance of Antimicrobial Resistant Microorganisms and Antimicrobial Resistance Genes across the Food Chain
Next Article in Special Issue
Decoding the Heart through Next Generation Sequencing Approaches
Previous Article in Journal
Comparative Analysis of DNA Methylation Reveals Specific Regulations on Ethylene Pathway in Tomato Fruit
Previous Article in Special Issue
Identification of Major Rhizobacterial Taxa Affected by a Glyphosate-Tolerant Soybean Line via Shotgun Metagenomic Approach
Article Menu
Issue 5 (May) cover image

Export Article

Open AccessArticle
Genes 2018, 9(5), 267; https://doi.org/10.3390/genes9050267

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

1
Behavioral Genetics Unit, Department of Genetics, King Faisal Specialist Hospital & Research Center, P.O. Box 3354, Riyadh 11211, Saudi Arabia
2
Department of Genetics, King Faisal Specialist Hospital & Research Centre. P.O. Box 3354, Riyadh 11211, Saudi Arabia
3
Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia
4
Saudi Human Genome Program, King Abdulaziz City for Science & Technology, Riyadh, Saudi Arabia
*
Author to whom correspondence should be addressed.
Received: 2 April 2018 / Revised: 14 May 2018 / Accepted: 18 May 2018 / Published: 22 May 2018
(This article belongs to the Special Issue Emerging Applications for Next Generation Sequencing)
Full-Text   |   PDF [424 KB, uploaded 22 May 2018]   |  

Abstract

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 genetic variations. As a result, these technologies have become a valuable tool for gene discovery and for clinical diagnostics. The AmpliSeq Inherited Disease Panel (IDP) consists of 328 genes underlying more than 700 inherited diseases. Here, we aimed to assess the performance of the IDP as a sensitive and rapid comprehensive gene panel testing. A total of 88 patients with inherited diseases and causal mutations that were previously identified by Sanger sequencing were randomly selected for assessing the performance of the IDP. The IDP successfully detected 93.1% of the mutations in our validation cohort, achieving high overall gene coverage (98%). The sensitivity for detecting single nucleotide variants (SNVs) and short Indels was 97.3% and 69.2%, respectively. IDP, when coupled with Ion Torrent Personal Genome Machine (PGM), delivers comprehensive and rapid sequencing for genes that are responsible for various inherited diseases. Our validation results suggest the suitability of this panel for use as a first-line screening test after applying the necessary clinical validation. View Full-Text
Keywords: inherited diseases; mutations; gene panel; targeted NGS; AmpliSeq Inherited Disease Panel; Saudi Human Genome Program database inherited diseases; mutations; gene panel; targeted NGS; AmpliSeq Inherited Disease Panel; Saudi Human Genome Program database
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Supplementary material

SciFeed

Share & Cite This Article

MDPI and ACS Style

Mustafa, A.E.; Faquih, T.; Baz, B.; Kattan, R.; Al-Issa, A.; Tahir, A.I.; Imtiaz, F.; Ramzan, K.; Al-Sayed, M.; Alowain, M.; Al-Hassnan, Z.; Al-Zaidan, H.; Abouelhoda, M.; Al-Mubarak, B.R.; Al Tassan, N.A. Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection. Genes 2018, 9, 267.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top