By a News Reporter-Staff News Editor at Biotech Business Week -- Investigators discuss new findings in Cardiology. According to news reporting originating in London, United Kingdom, by NewsRx journalists, research stated, "Molecular genetic testing is recommended for diagnosis of inherited cardiac disease, to guide prognosis and treatment, but access is often limited by cost and availability. Recently introduced high-throughput bench-top DNA sequencing platforms have the potential to overcome these limitations."
The news reporters obtained a quote from the research from Imperial College, "We evaluated two next-generation sequencing (NGS) platforms for molecular diagnostics. The protein-coding regions of six genes associated with inherited arrhythmia syndromes were amplified from 15 human samples using parallelised multiplex PCR (Access Array, Fluidigm), and sequenced on the MiSeq (Illumina) and Ion Torrent PGM (Life Technologies). Overall, 97.9% of the target was sequenced adequately for variant calling on the MiSeq, and 96.8% on the Ion Torrent PGM. Regions missed tended to be of high GC-content, and most were problematic for both platforms. Variant calling was assessed using 107 variants detected using Sanger sequencing: within adequately sequenced regions, variant calling on both platforms was highly accurate (Sensitivity: MiSeq 100%, PGM 99.1%. Positive predictive value: MiSeq 95.9%, PGM 95.5%). At the time of the study the Ion Torrent PGM had a lower capital cost and individual runs were cheaper and faster. The MiSeq had a higher capacity (requiring fewer runs), with reduced hands-on time and simpler laboratory workflows. Both provide significant cost and time savings over conventional methods, even allowing for adjunct Sanger sequencing to validate findings and sequence exons missed by NGS. MiSeq and Ion Torrent PGM both provide accurate variant detection as part of a PCR-based molecular diagnostic workflow, and provide alternative platforms for molecular diagnosis of inherited cardiac conditions. Though there were performance differences at this throughput, platforms differed primarily in terms of cost, scalability, protocol stability and ease of use."
According to the news reporters, the research concluded: "Compared with current molecular genetic diagnostic tests for inherited cardiac arrhythmias, these NGS approaches are faster, less expensive, and yet more comprehensive."
For more information on this research see: Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers. Plos One, 2013;8(7):e67744. (Public Library of Science - www.plos.org; Plos One - www.plosone.org)
Our news correspondents report that additional information may be obtained by contacting X. Li, National Heart and Lung Institute, Imperial College, London, UK. Additional authors for this research include A.J. Buckton, S.L. Wilkinson, S. John, R. Walsh, T. Novotny, I. Valaskova, M. Gupta, L. Game, P.J. Barton, S.A. Cook and J.S Ware (see also Cardiology).
Keywords for this news article include: London, Europe, Genetics, Cardiology, DNA Research, United Kingdom.
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