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Using syncmers improves long-read mapping

Abhinav Dutta, David Pellow, View ORCID ProfileRon Shamir
doi: https://doi.org/10.1101/2022.01.10.475696
Abhinav Dutta
1Computer Science and Engineering, India Institute of Technology Patna, Patna, India
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David Pellow
2Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, Israel
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Ron Shamir
2Blavatnik School of Computer Science, Tel-Aviv University, Tel-Aviv, Israel
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  • For correspondence: rshamir@tau.ac.il
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Abstract

As sequencing datasets keep growing larger, time and memory efficiency of read mapping are becoming more critical. Many clever algorithms and data structures were used to develop mapping tools for next generation sequencing, and in the last few years also for third generation long reads. A key idea in mapping algorithms is to sketch sequences with their minimizers. Recently, syncmers were introduced as an alternative sketching method that is more robust to mutations and sequencing errors.

Here we introduce parameterized syncmer schemes, and provide a theoretical analysis for multi-parameter schemes. By combining these schemes with downsampling or minimizers we can achieve any desired compression and window guarantee. We introduced syncmer schemes into the popular minimap2 and Winnowmap2 mappers. In tests on simulated and real long read data from a variety of genomes, the syncmer-based algorithms reduced unmapped reads by 20-60% at high compression while using less memory. The advantage of syncmer-based mapping was even more pronounced at lower sequence identity. At sequence identity of 65-75% and medium compression, syncmer mappers had 50-60% fewer unmapped reads, and ∼ 10% fewer of the reads that did map were incorrectly mapped. We conclude that syncmer schemes improve mapping under higher error and mutation rates. This situation happens, for example, when the high error rate of long reads is compounded by a high mutation rate in a cancer tumor, or due to differences between strains of viruses or bacteria.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted January 11, 2022.
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Using syncmers improves long-read mapping
Abhinav Dutta, David Pellow, Ron Shamir
bioRxiv 2022.01.10.475696; doi: https://doi.org/10.1101/2022.01.10.475696
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Using syncmers improves long-read mapping
Abhinav Dutta, David Pellow, Ron Shamir
bioRxiv 2022.01.10.475696; doi: https://doi.org/10.1101/2022.01.10.475696

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