Ontology highlight
ABSTRACT:
SUBMITTER: Bowden R
PROVIDER: S-EPMC6478738 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Bowden Rory R Davies Robert W RW Heger Andreas A Pagnamenta Alistair T AT de Cesare Mariateresa M Oikkonen Laura E LE Parkes Duncan D Freeman Colin C Dhalla Fatima F Patel Smita Y SY Popitsch Niko N Ip Camilla L C CLC Roberts Hannah E HE Salatino Silvia S Lockstone Helen H Lunter Gerton G Taylor Jenny C JC Buck David D Simpson Michael A MA Donnelly Peter P
Nature communications 20190423 1
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 information ...[more]