On the integration of assembly and non-assembly approaches for comparing biological sequences

Vi Dam, Hesham H. Ali

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

Abstract

As Next Generation Sequencing (NGS) technologies continue to expand rapidly, the need to assemble and manipulate NGS data, available in the form of short genomic reads, remains the primary source of biological data in many Bioinformatics applications. As a result, many assemblers have been developed to assemble NSG short reads into long genomic sequences or contigs ready for advanced analysis such as Whole Genome Wide Studies (GWAS). However, the lack of high levels of robustness and reproducibility continue to limit the impact of Bioinformatics research and many biomedical researchers remain skeptical of results obtained from bioinformatics applications. In this study, we conduct a comparative study of various widely used assemblers and compare their performances using several NGS datasets associated with various organisms. We highlight the advantages and disadvantage of each assembler and explore the factors that impact the performance of each approach. In addition, we survey the assembly-free compression approach recently developed to process NGS short reads to analyze their performance in comparing genomic sequences represented by sets of short reads. We use phylogeny trees obtained from simulated and real datasets to evaluate the accuracy of each assembly-free approach. We test the hypothesis that non-assembly approaches could potentially overcome the limitations and inaccuracies of assembly approaches in comparing sequences, especially for large read sizes. Moreover, we proposed a hybrid approach by integrating both assembly and non-assembly approach for classifying genomic sequences. The proposed approach incorporates results obtained from partially assembling short reads as input for assembly-free methods to complete the NGS manipulation process. Preliminary superior results show that the hybrid approach is potential in comparing genomic sequences.

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.
Pages2232-2234
Number of pages3
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
Country/TerritoryUnited States
CityKansas City
Period11/13/1711/16/17

ASJC Scopus subject areas

  • Biomedical Engineering
  • Health Informatics

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