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Are We Ready for Real-Time Applications of Clinical NGS? | 12727

次世代シーケンシングとアプリケーションのジャーナル

ISSN - 2469-9853

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Are We Ready for Real-Time Applications of Clinical NGS?

Barh D, Marianna E. Ivanova, Azevedo V

The $1000 genome concept is going to be reality soon due to the huge reduction in sequencing cost using the latest Next-Generation Sequencing (NGS) platforms. Current Illumina HiSeq / MiSeq and Ion Torrent platforms from Thermo Fisher Scientific Inc. have made significance contribution towards reducing the cost and increasing the speed of sequencing. The MinION USB stick DNA sequencer by Oxford Nanopore Technologies may be a key market player in near future regarding cost, speed, and efficacy. On the other hand, cloudbased several bioinformatics platforms are in the market to analyse these NGS data. However, the quality of their data analysis and interpretation for clinical genome or exome is doubtful.

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