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. 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.

中文翻译：

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variome概念：专注于CNVariome

变异组可用于指定特定于个体或疾病的基因组变异之间相互作用的复杂系统。尽管公认的表型特征和疾病的基因组基础很复杂，但对疾病遗传原因的研究通常致力于识别单一的致病基因组变化（突变）。当采用这种人为简化的模型时，在绝大多数人类疾病中，表型结果的基因组基础仍然难以捉摸。此外，反复证明单个基因组内的多个基因组变化可能是该现象的基础。变异组对表型累积影响的最好例子可能是 CNV（拷贝数变异）负担。因此，我们提出了基于 CNV 研究的 variome 概念，为 CNVariome（影响个体基因组的一组 CNV）的存在提供了证据，CNVariome 是基因组分析的目标，可用于揭示疾病的遗传机制和表型特征。变异组 (CNVariome) 概念表明基因组环境由单个基因组内的整个基因组变异 (CNV) 集决定。基因组环境很可能是这些变异之间相互作用的结果。此外，这种类型的变异可能是个体的或疾病特异性的。此外，这种变异可能是通路特异性的。后者能够影响基因组稳定性维持的分子/细胞途径，导致发生基因组/染色体不稳定性和/或体细胞嵌合，从而导致体细胞变异。这种变异类型似乎对揭示疾病机制也很重要。最后，似乎在疾病和途径特异性变异的背景下对个体和体细胞变异进行生物信息学分析是确定表型的基因组基础和揭示当前无法治愈的疾病的管理和治疗的疾病机制的最有希望的方法.