Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data

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dc.citation.articleNumber1321en_US
dc.citation.journalTitleNature Communicationsen_US
dc.citation.volumeNumber13en_US
dc.contributor.authorLiu, Yunxien_US
dc.contributor.authorKearney, Joshuaen_US
dc.contributor.authorMahmoud, Medhaten_US
dc.contributor.authorKille, Bryceen_US
dc.contributor.authorSedlazeck, Fritz J.en_US
dc.contributor.authorTreangen, Todd J.en_US
dc.date.accessioned2022-04-15T14:45:37Zen_US
dc.date.available2022-04-15T14:45:37Zen_US
dc.date.issued2022en_US
dc.description.abstractInfectious disease monitoring on Oxford Nanopore Technologies (ONT) platforms offers rapid turnaround times and low cost. Tracking low frequency intra-host variants provides important insights with respect to elucidating within-host viral population dynamics and transmission. However, given the higher error rate of ONT, accurate identification of intra-host variants with low allele frequencies remains an open challenge with no viable computational solutions available. In response to this need, we present Variabel, a novel approach and first method designed for rescuing low frequency intra-host variants from ONT data alone. We evaluate Variabel on both synthetic data (SARS-CoV-2) and patient derived datasets (Ebola virus, norovirus, SARS-CoV-2); our results show that Variabel can accurately identify low frequency variants below 0.5 allele frequency, outperforming existing state-of-the-art ONT variant callers for this task. Variabel is open-source and available for download at: www.gitlab.com/treangenlab/variabel.en_US
dc.identifier.citationLiu, Yunxi, Kearney, Joshua, Mahmoud, Medhat, et al.. "Rescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing data." <i>Nature Communications,</i> 13, (2022) Springer Nature: https://doi.org/10.1038/s41467-022-28852-1.en_US
dc.identifier.digitals41467-022-28852-1en_US
dc.identifier.doihttps://doi.org/10.1038/s41467-022-28852-1en_US
dc.identifier.urihttps://hdl.handle.net/1911/112097en_US
dc.language.isoengen_US
dc.publisherSpringer Natureen_US
dc.rightsThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.titleRescuing low frequency variants within intra-host viral populations directly from Oxford Nanopore sequencing dataen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
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