Three decades of rat genomics: approaching the finish(ed) line

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1 Scopus citations

Abstract

The rat, Rattus norvegicus, has provided an important model for investigation of a range of characteristics of biomedical importance. Here we survey the origins of this species, its introduction into laboratory research, and the emergence of genetic and genomic methods that utilize this model organism. Genomic studies have yielded important progress and provided new insight into several biologically important traits. However, some studies have been impeded by the lack of a complete and accurate reference genome for this species. New sequencing and genome assembly methods applied to the rat have resulted in a new reference genome assembly, GRCr8, which is a near telomere-to-telomere assembly of high base-level accuracy that incorporates several elements not captured in prior assemblies. As genome assembly methods continue to advance and production costs become a less significant obstacle, genome assemblies for multiple inbred rat strains are emerging. These assemblies will allow a rat pangenome assembly to be constructed that captures all the genetic variations in strains selected for their utility in research and will overcome reference bias, a limitation associated with reliance on a single reference assembly. By this means, the full utility of this model organism to genomic studies will begin to be revealed.

Original languageEnglish
Pages (from-to)807-818
Number of pages12
JournalPhysiological Genomics
Volume56
Issue number12
DOIs
StatePublished - Dec 2024

Bibliographical note

Publisher Copyright:
© 2024 the American Physiological Society.

Funding

This work was supported in part by National Institutes of Health Grant R01HG011252 (to P.A.D., M.L.S., and T.S.K.).

FundersFunder number
National Institutes of Health (NIH)R01HG011252

    Keywords

    • genome annotation
    • genome assembly
    • repetitive regions
    • structural variation

    ASJC Scopus subject areas

    • Physiology
    • Genetics

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