Key result
Both MiSeq and Ion Torrent PGM provided highly accurate variant detection for inherited cardiac conditions, with MiSeq achieving 100% sensitivity and PGM achieving 99.1% sensitivity compared to Sanger sequencing.
Why the study?
Do bench-top NGS platforms (MiSeq and Ion Torrent PGM) provide accurate variant detection compared to Sanger sequencing for inherited cardiac conditions?
Population
15 anonymised human DNA samples from subjects evaluated for inherited arrhythmia syndromes.
Comparison
Next-generation sequencing using MiSeq and Ion… vs Direct dideoxy Sanger DNA sequencing.
Design
Other
Authors
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May support bench-top NGS for inherited cardiac conditions; leaves open prospective validation before replacing Sanger sequencing.
Do bench-top NGS platforms (MiSeq and Ion Torrent PGM) provide accurate variant detection compared to Sanger sequencing for inherited cardiac conditions?
Absolute Event Rate: 100% vs 99.1%
Bench-top NGS platforms (MiSeq and Ion Torrent PGM) provide accurate, faster, and less expensive variant detection for inherited cardiac arrhythmias compared to conventional Sanger sequencing.
Li et al. (2013) studied Inherited cardiac conditions (arrhythmia syndromes) (n=15). Next-generation sequencing (MiSeq and Ion Torrent PGM) vs. Sanger sequencing was evaluated on Variant calling sensitivity. Both MiSeq and Ion Torrent PGM provided highly accurate variant detection for inherited cardiac conditions, with MiSeq achieving 100% sensitivity and PGM achieving 99.1% sensitivity compared to Sanger sequencing.
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