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Public Library of Science, PLoS Computational Biology, 10(17), p. e1009186, 2021

DOI: 10.1371/journal.pcbi.1009186

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Enhancing breakpoint resolution with deep segmentation model: A general refinement method for read-depth based structural variant callers

Journal article published in 2021 by Yao-Zhong Zhang ORCID, Seiya Imoto, Satoru Miyano ORCID, Rui Yamaguchi ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Read-depths (RDs) are frequently used in identifying structural variants (SVs) from sequencing data. For existing RD-based SV callers, it is difficult for them to determine breakpoints in single-nucleotide resolution due to the noisiness of RD data and the bin-based calculation. In this paper, we propose to use the deep segmentation model UNet to learn base-wise RD patterns surrounding breakpoints of known SVs. We integrate model predictions with an RD-based SV caller to enhance breakpoints in single-nucleotide resolution. We show that UNet can be trained with a small amount of data and can be applied both in-sample and cross-sample. An enhancement pipeline named RDBKE significantly increases the number of SVs with more precise breakpoints on simulated and real data. The source code of RDBKE is freely available at https://github.com/yaozhong/deepIntraSV.