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The variome concept: focus on CNVariome

机译：Varioome的概念：专注于CNVariome

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Background:Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of genetic causes of a disease are usually dedicated to the identification of single causative genomic changes (mutations). When such an artificially simplified model is employed, genomic basis of phenotypic outcomes remains elusive in the overwhelming majority of human diseases. Moreover, it is repeatedly demonstrated that multiple genomic changes within an individual genome are likely to underlie the phenome. Probably the best example of cumulative effect of variome on the phenotype is CNV (copy number variation) burden. Accordingly, we have proposed a variome concept based on CNV studies providing the evidence for the existence of a CNVariome (the set of CNV affecting an individual genome), a target for genomic analyses useful for unraveling genetic mechanisms of diseases and phenotypic traits.Conclusion:Variome (CNVariome) concept suggests that a genomic milieu is determined by the whole set of genomic variations (CNV) within an individual genome. The genomic milieu is likely to result from interplay between these variations. Furthermore, such kind of variome may be either individual or disease-specific. Additionally, such variome may be pathway-specific. The latter is able to affect molecular/cellular pathways of genome stability maintenance leading to occurrence of genomic/chromosome instability and/or somatic mosaicism resulting in somatic variome. This variome type seems to be important for unraveling disease mechanisms, as well. Finally, it appears that bioinformatic analysis of both individual and somatic variomes in the context of diseases- and pathway-specific variomes is the most promising way to determine genomic basis of the phenome and to unravel disease mechanisms for the management and treatment of currently incurable diseases.? The Author(s). 2019.
机译：背景：Varioome可用于指定在特异性或疾病的基因组变异之间的复杂相互作用系统。尽管对表型性状和疾病的基因组基础具有认可的复杂性，但疾病的遗传原因的研究通常致力于鉴定单一的致病基因组变化（突变）。当采用这种人工简化的模型时，表型结果的基因组基础在绝大多数人类疾病中仍然难以捉摸。此外，彼此反复证明，个体基因组内的多种基因组变化可能使苯胺提出。可能是在表型上的Variiome累积效应的最佳举例是CNV（拷贝数变异）负担。因此，我们提出了一种基于CNV研究的Varioome概念，提供了存在CNVariome（影响个体基因组的CNV集）的证据，一种用于解开疾病遗传机制和表型特征的基因组分析的靶标。结论： Varioome（CNVariome）概念表明基因组Milieu由个体基因组内的整组基因组变异（CNV）决定。基因组Milieu可能会导致这些变化之间的相互作用。此外，这种种类的Variome可以是个体或疾病特异性的。另外，这种Variome可以是特异性的途径。后者能够影响基因组稳定性维持的分子/细胞途径，导致产生基因组/染色体不稳定性和/或体细胞镶嵌导致体细胞体积的稳定性。这种VALIIOME类型似乎对解开疾病机制很重要。最后，似乎对疾病和途径特异性变形的背景下的个体和体细胞变形的生物信息分析是确定植物的基因组基础的最有希望的方法以及对目前无法治愈疾病的管理和治疗的解剖疾病机制。？作者。 2019年。

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