ArticleMolecular diagnosis & therapy2014
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Article in Molecular diagnosis & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 33 citations in OpenAlex.
- Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA.PloS one · 2015Trial
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- Atrial Structural Remodeling Gene Variants in Patients with Atrial Fibrillation.BioMed research international · 2018Article
- Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Molecular diagnosis & therapy · 2017Article
- Statistical method to compare massive parallel sequencing pipelines.BMC bioinformatics · 2017Article
- Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.Molecular diagnosis & therapy · 2016Article
- Exploring Genetic Diversity in Plants Using High-Throughput Sequencing Techniques.Current genomics · 2016Article
- Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.Journal of cardiovascular translational research · 2016Article
- Genetic analysis of Iranian family with hereditary cardiac arrhythmias by next generation sequencing.Advanced biomedical research · 2016Article
- Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?Frontiers in cardiovascular medicine · 2016Article
- Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Expert review of precision medicine and drug development · 2016Article
- Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Genome medicine · 2015Article
- Evaluation of the Ion Torrent Personal Genome Machine for Gene-Targeted Studies Using Amplicons of the Nitrogenase Gene nifH.Applied and environmental microbiology · 2015Article
- Article
- Highly sensitive amplicon-based transcript quantification by semiconductor sequencing.BMC genomics · 2014Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectiveInherited long QT syndrome (LQTS) is a cardiac channelopathy associated with a high risk of sudden death. The prevalence has been estimated at close to 1:2,000. Due to large cohorts to investigate and high rate of private mutations, mutational screening must be performed using an extremely sensitive and specific detection method. Mutational screening is crucial as this may have implications for therapy and management of LQTS patients.
methodsNext-generation sequencing (NGS) workflow based on a custom AmpliSeq™ panel was designed for sequencing the five most prevalent cardiomyopathy-causing genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) on Ion PGM™ Sequencer. A cohort of 30 previously studied patients was screened to evaluate this strategy in terms of sensitivity, specificity, practicability, and cost. In silico analysis was performed using NextGENe(®) software.
resultsOur AmpliSeq™ custom panel allowed us to explore 86 % of targeted sequences efficiently. Using adjusted alignment settings, all genetic variants (40 substitutions, 17 indels) present in covered regions and previously detected by high-resolution melt (HRM)/sequencing were readily identified. Uncovered targeted regions, which were mainly located in KCNH2, were further analyzed by HRM/sequencing strategy. Complete molecular investigation was performed faster and cheaper than with previously used mutation detection methods.
conclusionFinally, these results suggested that our new NGS approach based on AmpliSeq™ libraries and Ion PGM™ sequencing is a highly efficient, fast, and cheap high-throughput mutation detection method that is ready to be deployed in clinical laboratories. This method will allow fast identification of LQTS mutations that will have further implications for therapeutics.
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