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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...
Autores principales: | De Coster, Wouter, De Rijk, Peter, De Roeck, Arne, De Pooter, Tim, D'Hert, Svenn, Strazisar, Mojca, Sleegers, Kristel, Van Broeckhoven, Christine |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633254/ https://www.ncbi.nlm.nih.gov/pubmed/31186302 http://dx.doi.org/10.1101/gr.244939.118 |
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