TY - JOUR
T1 - Three decades of rat genomics
T2 - approaching the finish(ed) line
AU - Kalbfleisch, Theodore S.
AU - Smith, Melissa L.
AU - Ciosek, Julia L.
AU - Li, Kai
AU - Doris, Peter A.
N1 - Publisher Copyright:
© 2024 the American Physiological Society.
PY - 2024/12
Y1 - 2024/12
N2 - 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.
AB - 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.
KW - genome annotation
KW - genome assembly
KW - repetitive regions
KW - structural variation
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U2 - 10.1152/physiolgenomics.00110.2024
DO - 10.1152/physiolgenomics.00110.2024
M3 - Review article
C2 - 39348459
AN - SCOPUS:85208772549
SN - 1094-8341
VL - 56
SP - 807
EP - 818
JO - Physiological Genomics
JF - Physiological Genomics
IS - 12
ER -