Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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English
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Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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We sequenced the Yoruban NA19240 genome on the 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 a...
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Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
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TN_cdi_proquest_journals_2115902439
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2115902439
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E-ISSN
2692-8205
DOI
10.1101/434118
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https://www.proquest.com/docview/2115902439?pq-origsite=primo&accountid=13902
