Genetic load: genomic estimates and applications in non-model animals
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Genetic load : genomic estimates and applications in non-model animals. / Bertorelle, Giorgio; Raffini, Francesca; Bosse, Mirte; Bortoluzzi, Chiara; Iannucci, Alessio; Trucchi, Emiliano; Morales, Hernan E.; van Oosterhout, Cock.
In: Nature Reviews Genetics, 2022, p. 492–503.Research output: Contribution to journal › Review › Research › peer-review
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TY - JOUR
T1 - Genetic load
T2 - genomic estimates and applications in non-model animals
AU - Bertorelle, Giorgio
AU - Raffini, Francesca
AU - Bosse, Mirte
AU - Bortoluzzi, Chiara
AU - Iannucci, Alessio
AU - Trucchi, Emiliano
AU - Morales, Hernan E.
AU - van Oosterhout, Cock
PY - 2022
Y1 - 2022
N2 - Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.The reduction in individual and mean population fitness induced by novel deleterious genetic variation is known as the genetic load. Bertorelle et al. review the definition of the genetic load and its components as well as the impact of whole-genome sequencing on the theoretical and applied study of the genetic load.
AB - Genetic variation, which is generated by mutation, recombination and gene flow, can reduce the mean fitness of a population, both now and in the future. This 'genetic load' has been estimated in a wide range of animal taxa using various approaches. Advances in genome sequencing and computational techniques now enable us to estimate the genetic load in populations and individuals without direct fitness estimates. Here, we review the classic and contemporary literature of genetic load. We describe approaches to quantify the genetic load in whole-genome sequence data based on evolutionary conservation and annotations. We show that splitting the load into its two components - the realized load (or expressed load) and the masked load (or inbreeding load) - can improve our understanding of the population genetics of deleterious mutations.The reduction in individual and mean population fitness induced by novel deleterious genetic variation is known as the genetic load. Bertorelle et al. review the definition of the genetic load and its components as well as the impact of whole-genome sequencing on the theoretical and applied study of the genetic load.
KW - DELETERIOUS MUTATION LOAD
KW - INBREEDING DEPRESSION
KW - DRIFT LOAD
KW - CONSERVATION MANAGEMENT
KW - POPULATION DECLINE
KW - EVOLUTION
KW - SELECTION
KW - HISTORY
KW - ALLELES
KW - EXTINCTION
U2 - 10.1038/s41576-022-00448-x
DO - 10.1038/s41576-022-00448-x
M3 - Review
C2 - 35136196
SP - 492
EP - 503
JO - Nature Reviews. Genetics
JF - Nature Reviews. Genetics
SN - 1471-0056
ER -
ID: 297957152