Genome Biology (Oct 2024)

When less is more: sketching with minimizers in genomics

  • Malick Ndiaye,
  • Silvia Prieto-Baños,
  • Lucy M. Fitzgerald,
  • Ali Yazdizadeh Kharrazi,
  • Sergey Oreshkov,
  • Christophe Dessimoz,
  • Fritz J. Sedlazeck,
  • Natasha Glover,
  • Sina Majidian

DOI
https://doi.org/10.1186/s13059-024-03414-4
Journal volume & issue
Vol. 25, no. 1
pp. 1 – 35

Abstract

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Abstract The exponential increase in sequencing data calls for conceptual and computational advances to extract useful biological insights. One such advance, minimizers, allows for reducing the quantity of data handled while maintaining some of its key properties. We provide a basic introduction to minimizers, cover recent methodological developments, and review the diverse applications of minimizers to analyze genomic data, including de novo genome assembly, metagenomics, read alignment, read correction, and pangenomes. We also touch on alternative data sketching techniques including universal hitting sets, syncmers, or strobemers. Minimizers and their alternatives have rapidly become indispensable tools for handling vast amounts of data.