Translocator: Local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long reads

Ye Wu, Ruibang Luo, Tak Wah Lam, Hing Fung Ting, Junwen Wang

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Translocation is an important class of structural variants known to be associated with cancer formation and treatment. The recent development in single-molecule sequencing technologies that produce long reads has promised an advance in detecting translocations accurately. However, existing tools struggled with the high base error-rate of the long reads. Figuring out the correct translocation breakpoints is especially challenging due to suboptimally aligned reads. To address the problem, we developed Translocator, a robust and accurate translocation detection method that implements an effective realignment algorithm to recover the correct alignments. For benchmarking, we analyzed using NA12878 long reads against a modified GRCh38 reference genome embedded with translocations at known locations. Our results show that Translocator significantly outperformed other state-of-The-Art methods, including Sniffles and PBSV. On Oxford Nanopore data, the recall improved from 48.2% to 87.5% and the precision from 88.7% to 92.7%. Translocator is available open-source at https://github.com/HKU-BAL/Translocator.

Original languageEnglish (US)
Title of host publicationProceedings of the 11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2020
PublisherAssociation for Computing Machinery, Inc
ISBN (Electronic)9781450379649
DOIs
StatePublished - Sep 21 2020
Event11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2020 - Virtual, Online, United States
Duration: Sep 21 2020Sep 24 2020

Publication series

NameProceedings of the 11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2020

Conference

Conference11th ACM International Conference on Bioinformatics, Computational Biology and Health Informatics, BCB 2020
CountryUnited States
CityVirtual, Online
Period9/21/209/24/20

Keywords

  • Global Remapping
  • Local realignment
  • Structural Variant
  • Translocation

ASJC Scopus subject areas

  • Computer Science Applications
  • Software
  • Biomedical Engineering
  • Health Informatics

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