Article

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

2018-10-03

Abstract excerpt

We sequenced the Yoruban NA19240 genome on the long read sequencing platform Oxford Nanopore PromethION for benchmarking and evaluation of recently published aligners and structural variant calling tools. In this work, we determined the precision and recall, present high confidence and high sensitivity call sets of variants and discuss optimal parameters. The aligner Minimap2 and structural variant caller Sniffles...

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Literature Corpus work: c7f19d66-c90e-523e-b811-07bba5332731
DOI: 10.1101/434118

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