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Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting – NEJM

https://www.nejm.org/doi/10.1056/NEJMc2112090

by andrewon • 5 years ago

3 1 5 years ago

NE

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andrewon• 5 years ago

The shortest time from arrival of the blood sample in the laboratory to the initial diagnosis was 7 hours 18 minutes.
After establishing a diagnosis in Patient 1, we updated our bioinformatics framework to permit the transfer of terabytes of raw signal data to Cloud storage in real time and distributed the data across multiple Cloud computing machines to achieve near real-time base calling and align- ment, a step that reduced the postsequencing run time (base calling through alignment) by 93%, from 7 hours 21 minutes to 34 minutes.

Amazing basecalling and alignment of a human genome can be done in 34 minutes. How far we have come since the first reading of human genome.

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