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Sequencing of human genomes with nanopore technology

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 method to infer and then exploit phase informati...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41467-019-09637-5

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
ORCID:
0000-0002-9847-1526
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Publisher:
Nature Research Publisher's website
Journal:
Nature Communications Journal website
Volume:
10
Article number:
1869
Publication date:
2019-04-23
Acceptance date:
2019-03-19
DOI:
EISSN:
2041-1723
Pmid:
31015479
Language:
English
Keywords:
Pubs id:
pubs:994949
UUID:
uuid:5ee77beb-0aa9-4eca-be2b-9915fd8cf308
Local pid:
pubs:994949
Deposit date:
2019-05-01

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