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

We sequenced the genome of the Yoruban reference individual NA19240 on the long-read sequencing platform Oxford Nanopore PromethION for evaluation and benchmarking of recently published aligners and germline structural variant calling tools, as well as a comparison with the performance of structural...

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Vydáno v:Genome Res
Hlavní autoři: De Coster, Wouter, De Rijk, Peter, De Roeck, Arne, De Pooter, Tim, D'Hert, Svenn, Strazisar, Mojca, Sleegers, Kristel, Van Broeckhoven, Christine
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6633254/
https://ncbi.nlm.nih.gov/pubmed/31186302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.244939.118
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