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|Alternative name||Oligonucleotide-Selective Sequencing|
|Interface||Command line interface|
|Restrictions to use||None|
|Operating system||Unix/Linux, Mac OS, Windows|
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Publication for Oligonucleotide-Selective Sequencing
Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy
[…] ve a smaller spectrum of rare variation. To investigate the genetic landscape of DCM in the Finnish population, to evaluate associations between genotype and phenotype, and to evaluate the utility of OS-Seq technology as a novel comprehensive diagnostic tool, we developed and utilized a high-quality 101-gene OS-Seq-based targeted resequencing panel. In this study, we show excellent sequencing perf […]
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide selective sequencing
[…] ent, reliable, and high-depth sequencing of clinically relevant genomic regions with complete coverage.To demonstrate the utility of NGS in the diagnostics of inherited diseases, we have developed an OS-Seq sequencing panel to accurately detect mutations in seven genes that have been implicated in the pathogenesis of PAH. We collected over 900 mutations from literature and existing databases to su […]
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
[…] technology, many of those applications should translate well and be equally practicable. There are a few obvious exceptions; techniques involving manipulations on the flow cell such as FRT-seq  and OS-Seq  will be impossible using semiconductor sequencing. Also, the Ion Torrent platform currently employs fragment lengths of 100 or 200 bases; without a mate-pair type library protocol, these ins […]
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