Abstract

Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine. However, existing techniques for de novo genome assembly, which is used for the analysis of genomic rearrangements, chromosome phasing, and reconstructing genomes without a reference, require solving tasks of high computational complexity. Here we demonstrate a method for solving genome assembly tasks with the use of quantum and quantum-inspired optimization techniques. Within this method, we present experimental results on genome assembly using quantum annealers both for simulated data and the phi X 174 bacteriophage. Our results pave a way for an increase in the efficiency of solving bioinformatics problems with the use of quantum computing and, in particular, quantum annealing. We expect that the new generation of quantum annealing devices would outperform existing techniques for de novo genome assembly. To the best of our knowledge, this is the first experimental study of de novo genome assembly problems both for real and synthetic data on quantum annealing devices and quantum-inspired techniques.

Highlights

  • Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine

  • De novo assembly is essential for studying new species and structural genomic changes that cannot be detected by reading mapping

  • We apply our method for the experimental realization of de novo genome assembly using quantum and quantum-inspired annealers

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Summary

Introduction

Recent advances in DNA sequencing open prospects to make whole-genome analysis rapid and reliable, which is promising for various applications including personalized medicine. Existing techniques for de novo genome assembly, which is used for the analysis of genomic rearrangements, chromosome phasing, and reconstructing genomes without a reference, require solving tasks of high computational complexity. We demonstrate a method for solving genome assembly tasks with the use of quantum and quantum-inspired optimization techniques. De novo assembly of a tiny φ X 174 genome (5386 base pairs) on a laptop takes 10 minutes, while for the human genome (3 .2 × 106 base pairs) it takes about 48 hours on a s­ upercomputer[7] This time scale is acceptable in research tasks, but it is a limitation for emergency applications (including the clinical use). This approach is widely used in assemblers (e.g., see Ref.13) and becomes suitable for the single-molecule sequencing t­echnologies[14,16]

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