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.
Highlights
The morbidity, mortality, and disability that are associated with inherited diseases can be greatly reduced or prevented through improving the accuracy and speed of molecular testing
We report the successful validation of Inherited Disease Panel (IDP) as a comprehensive and sensitive assay for detecting causal mutations in a variety of inherited diseases
This study demonstrated the suitability of the IDP as a rapid and comprehensive approach for screening a large number of genes that are responsible for over 700 different inherited diseases
Summary
The morbidity, mortality, and disability that are associated with inherited diseases can be greatly reduced or prevented through improving the accuracy and speed of molecular testing. For instance, is widely used for the genetic evaluation of inherited diseases, owing to its ability to detect point mutations and small insertion/deletion sequence changes with high accuracy This method is typically utilized to evaluate a small fragment of a single gene, and in some (less common) cases, to test a limited number of genes simultaneously. The fast development and the increasing availability of several generation sequencing (NGS) technologies, namely, whole genome, whole exome, and target panel-based sequencing allowed for comprehensive, high resolution, and accurate interrogation of the genome or portions of it in a short time These features made NGS a valuable tool for discovery research and for clinical genetic diagnostics [8,9]
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