Article

Clinical long-read sequencing of the human mitochondrial genome for mitochondrial disease diagnostics

2019-04-04

Abstract excerpt

<h4>Purpose</h4> Long-read, third generation, sequencing technologies have the potential to improve current state of the art diagnostic strategies. In order to determine if long-read sequencing technologies are suitable for the diagnosis of mitochondrial disorders due to mitochondrial DNA (mtDNA) variants, particularly large deletions, we compared the performance of Oxford Nanopore Technologies (ONT) MinION to cu...

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Literature Corpus work: 4e2253e4-faed-53e3-8d32-fff9e3dff489
DOI: 10.1101/597187

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