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Benchmarking small variant detection with ONT reveals high performance in challenging regions
View ORCID ProfilePeter L. Møller, Guillaume Holley, View ORCID ProfileDoruk Beyter, View ORCID ProfileMette Nyegaard, View ORCID ProfileBjarni V. Halldórsson
doi: https://doi.org/10.1101/2020.10.22.350009
Peter L. Møller
1Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, 8000 Aarhus C, Danmark
Guillaume Holley
2deCODE genetics/Amgen Inc., Sturlugata 8, 102, Reykjavík, Iceland
Doruk Beyter
2deCODE genetics/Amgen Inc., Sturlugata 8, 102, Reykjavík, Iceland
Mette Nyegaard
1Department of Biomedicine, Aarhus University, Høegh-Guldbergs Gade 10, 8000 Aarhus C, Danmark
Bjarni V. Halldórsson
2deCODE genetics/Amgen Inc., Sturlugata 8, 102, Reykjavík, Iceland
3School of Technology, Reykjavik University, 102, Reykjavik, Iceland
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Posted October 23, 2020.
Benchmarking small variant detection with ONT reveals high performance in challenging regions
Peter L. Møller, Guillaume Holley, Doruk Beyter, Mette Nyegaard, Bjarni V. Halldórsson
bioRxiv 2020.10.22.350009; doi: https://doi.org/10.1101/2020.10.22.350009
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