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Re-examination of two diatom reference genomes using long-read sequencing.

Gina V Filloramo1,2, Bruce A Curtis3,4, Emma Blanche3,4

  • 1Department of Biochemistry and Molecular Biology, Dalhousie University, PO Box 15000, Sir Charles Tupper Medical Building, 5850 College Street, Halifax, Nova Scotia, B3H 4R2, Canada. gina.filloramo@dal.ca.

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Summary

Long-read sequencing improved the quality and contiguity of diatom genomes, revealing new genes and transposable elements. These updated reference genomes offer a more robust foundation for future research on marine diatoms.

Keywords:
Bionano optical mappingDiatom genomicsLong-terminal repeat retrotransposonsOxford Nanopore long-read sequencingPhaeodactylum tricornutumThalassiosira pseudonana

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Area of Science:

  • Marine biology
  • Genomics
  • Molecular evolution

Background:

  • Marine diatoms Thalassiosira pseudonana and Phaeodactylum tricornutum are key model organisms.
  • Previous reference genomes (2004, 2008) were based on Sanger sequencing, containing unresolved regions.

Purpose of the Study:

  • To update and validate the quality and contiguity of T. pseudonana and P. tricornutum genomes using long-read sequencing.
  • To resolve uncertain genomic regions, characterize structural variation, and re-evaluate repetitive DNA content.
  • To explore the potential of long-read sequencing and optical mapping for resolving haplotypes.

Main Methods:

  • Oxford Nanopore Technologies long-read sequencing.
  • Fine-scale assessment of genome assemblies.
  • Bionano optical mapping of P. tricornutum chromosomes.

Main Results:

  • Long-read sequencing resolved previously uncertain genomic regions and characterized structural variation in both diatom genomes.
  • Identified 1862 new genes in T. pseudonana and 33 novel copia-type LTR-RT insertions in P. tricornutum.
  • Combined long-read data with optical mapping to explore haplotype resolution.

Conclusions:

  • Long-read sequencing, while powerful, faces challenges with repetitive DNA in genome assembly.
  • Revised reference genomes for P. tricornutum and T. pseudonana provide enhanced insight into diatom genome structure and evolution.
  • These updated genomes serve as a more robust foundation for future diatom research.