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Intérêt du séquençage de génome complet pour la détection précoce des anomalies génétiques

Abstract : The availability of whole genome sequences (WGS) of many individuals, made possible by the rapid evolution of DNA sequencing technologies, is a major factor for genetic defect identification. The conventional approach consisting in phenotyping affected animals, mapping and identification of the causal mutation gains speed and power with the availability of large sequence databases to filter out candidate variants. WGS also open new avenues, especially for defects with non specific phenotypes which may remain unobserved. Mapping of regions showing homozygous deficiency with massive genotyping data, followed by analysis of the genome sequences of carriers, enables the identification of several causal mutations responsible for embryonic lethality in different breeds. In a more prospective way, one can identify deleterious polymorphisms in WGS on the basis of their functional annotation, and then characterize their potential effect on carrier animals. Here this approach is illustrated by a defect affecting vision in the Normandy cattle breed. The rapid increase in the number of resolved genetic defects during the last years illustrates the power brought by WGS and this will continue in the future. These approaches still suffer from important limitations, especially the incomplete annotation of the biological effects of variants on the genome, or the phenotypic characterization of the mutations, oft n complex but necessary for a full comprehension of their effects. Finally, the increasing number of known defects in each breed requires new selection strategies, more complex than a direct elimination.
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Submitted on : Wednesday, June 3, 2020 - 3:55:48 AM
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  • HAL Id : hal-02742342, version 1
  • PRODINRA : 342804


Pauline Michot, S Chahory, M. Chambrial, Sarah Barbey, Cécile Grohs, et al.. Intérêt du séquençage de génome complet pour la détection précoce des anomalies génétiques. 22. Rencontres autour des Recherches sur les Ruminants, Dec 2015, Paris, France. 409 p. ⟨hal-02742342⟩



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