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https://doi.org/10.1186/s13059-020-01968-7
DC Field | Value | |
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dc.title | NanoVar: Accurate characterization of patients' genomic structural variants using low-depth nanopore sequencing | |
dc.contributor.author | Tham, C.Y. | |
dc.contributor.author | Tirado-Magallanes, R. | |
dc.contributor.author | Goh, Y. | |
dc.contributor.author | Fullwood, M.J. | |
dc.contributor.author | Koh, B.T.H. | |
dc.contributor.author | Wang, W. | |
dc.contributor.author | Ng, C.H. | |
dc.contributor.author | Chng, W.J. | |
dc.contributor.author | Thiery, A. | |
dc.contributor.author | Tenen, D.G. | |
dc.contributor.author | Benoukraf, T. | |
dc.date.accessioned | 2021-08-23T03:13:50Z | |
dc.date.available | 2021-08-23T03:13:50Z | |
dc.date.issued | 2020-03-03 | |
dc.identifier.citation | Tham, C.Y., Tirado-Magallanes, R., Goh, Y., Fullwood, M.J., Koh, B.T.H., Wang, W., Ng, C.H., Chng, W.J., Thiery, A., Tenen, D.G., Benoukraf, T. (2020-03-03). NanoVar: Accurate characterization of patients' genomic structural variants using low-depth nanopore sequencing. Genome Biology 21 (1) : 56. ScholarBank@NUS Repository. https://doi.org/10.1186/s13059-020-01968-7 | |
dc.identifier.issn | 14747596 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/198614 | |
dc.description.abstract | The recent advent of third-generation sequencing technologies brings promise for better characterization of genomic structural variants by virtue of having longer reads. However, long-read applications are still constrained by their high sequencing error rates and low sequencing throughput. Here, we present NanoVar, an optimized structural variant caller utilizing low-depth (8X) whole-genome sequencing data generated by Oxford Nanopore Technologies. NanoVar exhibits higher structural variant calling accuracy when benchmarked against current tools using low-depth simulated datasets. In patient samples, we successfully validate structural variants characterized by NanoVar and uncover normal alternative sequences or alleles which are present in healthy individuals. © 2020 The Author(s). | |
dc.publisher | BioMed Central Ltd. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Scopus OA2020 | |
dc.subject | Long reads | |
dc.subject | Low depth | |
dc.subject | Oxford Nanopore sequencing | |
dc.subject | Structural variants | |
dc.subject | SV characterization | |
dc.subject | Third-generation sequencing | |
dc.subject | WGS | |
dc.type | Article | |
dc.contributor.department | CANCER SCIENCE INSTITUTE OF SINGAPORE | |
dc.contributor.department | ORTHOPAEDIC SURGERY | |
dc.contributor.department | STATISTICS & APPLIED PROBABILITY | |
dc.contributor.department | MEDICINE | |
dc.description.doi | 10.1186/s13059-020-01968-7 | |
dc.description.sourcetitle | Genome Biology | |
dc.description.volume | 21 | |
dc.description.issue | 1 | |
dc.description.page | 56 | |
Appears in Collections: | Staff Publications Elements |
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