Unraveling complex local genomic rearrangements from long-read data

Zachary D. Stephens, Ravishankar K. Iyer, Chen Wang, Jean Pierre A. Kocher

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

Abstract

In this paper, we present a graph search approach for identifying arbitrarily complex structural genomic variation. Our method leverages the ability of long reads (e.g. from Pacific Biosciences platforms) to span multiple breakpoints of complicated local rearrangements, allowing us to resolve small-scale complexities that may be overlooked by other tools. We applied our method to a subset of NA12878 germline events using two long read datasets and demonstrate, with a concordance rate of 88.4% between the two sets, an increased ability to denote complex events over baseline calls from short read data. In a majority of the regions analyzed we detected small complexities that flank the breakpoints of larger events, including small insertions, inversions, and duplicated sequences. These patterns of complexity match known mechanisms associated with DNA replication and structural variant formation, and showcase the ability of our approach to efficiently unravel such events. Our method automatically classifies complex structural variant calls as a combination of nested or adjacent reference transformations, allowing users to identify specific structure types of interest. Additionally, an output report is generated for each event with interactive visual representations of the rearrangement.

Original languageEnglish (US)
Title of host publicationProceedings - 2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017
EditorsIllhoi Yoo, Jane Huiru Zheng, Yang Gong, Xiaohua Tony Hu, Chi-Ren Shyu, Yana Bromberg, Jean Gao, Dmitry Korkin
PublisherInstitute of Electrical and Electronics Engineers Inc.
Pages181-187
Number of pages7
ISBN (Electronic)9781509030491
DOIs
StatePublished - Dec 15 2017
Event2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017 - Kansas City, United States
Duration: Nov 13 2017Nov 16 2017

Publication series

NameProceedings - 2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017
Volume2017-January

Other

Other2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017
CountryUnited States
CityKansas City
Period11/13/1711/16/17

ASJC Scopus subject areas

  • Biomedical Engineering
  • Health Informatics

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  • Cite this

    Stephens, Z. D., Iyer, R. K., Wang, C., & Kocher, J. P. A. (2017). Unraveling complex local genomic rearrangements from long-read data. In I. Yoo, J. H. Zheng, Y. Gong, X. T. Hu, C-R. Shyu, Y. Bromberg, J. Gao, & D. Korkin (Eds.), Proceedings - 2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017 (pp. 181-187). (Proceedings - 2017 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2017; Vol. 2017-January). Institute of Electrical and Electronics Engineers Inc.. https://doi.org/10.1109/BIBM.2017.8217647