An accurate method for identifying recent recombinants from unaligned sequences

Author:

Feng Qian1ORCID,Tiedje Kathryn E23,Ruybal-Pesántez Shazia2456ORCID,Tonkin-Hill Gerry278,Duffy Michael F9,Day Karen P23,Shim Heejung1ORCID,Chan Yao-Ban1

Affiliation:

1. Melbourne Integrative Genomics/School of Mathematics and Statistics, The University of Melbourne , Melbourne, VIC 3010, Australia

2. School of BioSciences, The University of Melbourne, Bio21 Molecular Science and Biotechnology Institute , Melbourne, VIC 3010, Australia

3. Department of Microbiology and Immunology, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity and Bio21 Molecular Science and Biotechnology Institute , Melbourne, VIC 3000, Australia

4. Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research , Melbourne, VIC 3052, Australia

5. Department of Medical Biology, The University of Melbourne , Melbourne, VIC 3010, Australia

6. Burnet Institute , Melbourne, VIC 3004, Australia

7. Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research , Melbourne, VIC 3052, Australia

8. Parasites and Microbes, Wellcome Sanger Institute, Wellcome Genome Campus , Hinxton CB10 1SA, UK

9. Peter Doherty Institute for Infection and Immunity , Melbourne, VIC 3004, Australia

Abstract

Abstract Motivation Recombination is a fundamental process in molecular evolution, and the identification of recombinant sequences is thus of major interest. However, current methods for detecting recombinants are primarily designed for aligned sequences. Thus, they struggle with analyses of highly diverse genes, such as the var genes of the malaria parasite Plasmodium falciparum, which are known to diversify primarily through recombination. Results We introduce an algorithm to detect recent recombinant sequences from a dataset without a full multiple alignment. Our algorithm can handle thousands of gene-length sequences without the need for a reference panel. We demonstrate the accuracy of our algorithm through extensive numerical simulations; in particular, it maintains its effectiveness in the presence of insertions and deletions. We apply our algorithm to a dataset of 17 335 DBLα types in var genes from Ghana, observing that sequences belonging to the same ups group or domain subclass recombine amongst themselves more frequently, and that non-recombinant DBLα types are more conserved than recombinant ones. Availability and implementation Source code is freely available at https://github.com/qianfeng2/detREC_program. Supplementary information Supplementary data are available at Bioinformatics online.

Funder

National Institutes of Health

The University of Melbourne

China Scholarship Council

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

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