Sequencing of human genomes with nanopore technology

Rory Bowden; Robert W. Davies; Andreas Heger; Alistair T. Pagnamenta; M de Cesare; L E Oikkonen; D. E. Parkes; Colin Freeman; Fatima Dhalla; Smita Y. Patel; M A Simpson; Peter Donnelly

doi:https://doi.org/10.1038/s41467-019-09637-5

doi.org/10.1038/s41467-019-09637-5

Sequencing of human genomes with nanopore technology

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..., Peter Donnelly

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Nature Communications16.60

Volume: 10, Issue: 1

Published: Apr 23, 2019

Abstract

Whole-genome sequencing (WGS) is becoming widely used in clinical medicine in diagnostic contexts and to inform treatment choice. Here we evaluate the potential of the Oxford Nanopore Technologies (ONT) MinION long-read sequencer for routine WGS by sequencing the reference sample NA12878 and the genome of an individual with ataxia-pancytopenia syndrome and severe immune dysregulation. We develop and apply a novel reference panel-free analytical...

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Paper Details

Title

Sequencing of human genomes with nanopore technology

DOI

doi.org/10.1038/s41467-019-09637-5

Published Date

Apr 23, 2019

Journal

Nature Communications

Volume

10

Issue

1

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