Heng Henry H, Horne Steven D, Chaudhry Sophia, Regan Sarah M, Liu Guo, Abdallah Batoul Y, Ye Christine J
Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA.
Department of Pathology, Wayne State University School of Medicine, Detroit, MI, USA.
Curr Genomics. 2018 Apr;19(3):227-239. doi: 10.2174/1389202918666170717145716.
The postgenomic era is featured by massive data collection and analyses from various large scale-omics studies. Despite the promising capability of systems biology and bioinformatics to handle large data sets, data interpretation, especially the translation of -omics data into clinical implications, has been challenging.
In this perspective, some important conceptual and technological limitations of current systems biology are discussed in the context of the ultimate importance of the genome beyond the collection of all genes. Following a brief summary of the contributions of molecular cytogenetics/cytogenomics in the pre- and post-genomic eras, new challenges for postgenomic research are discussed. Such discussion leads to a call to search for a new conceptual framework and holistic methodologies.
Throughout this synthesis, the genome theory of somatic cell evolution is highlighted in contrast to gene theory, which ignores the karyotype-mediated higher level of genetic information. Since "system inheritance" is defined by the genome context (gene content and genomic topology) while "parts inheritance" is defined by genes/epigenes, molecular cytogenetics and cytogenomics (which directly study genome structure, function, alteration and evolution) will play important roles in this postgenomic era.
后基因组时代的特点是通过各种大规模组学研究进行海量数据的收集和分析。尽管系统生物学和生物信息学在处理大规模数据集方面具有可观的能力,但数据解读,尤其是将组学数据转化为临床意义,一直具有挑战性。
从这个角度来看,鉴于基因组在收集所有基因之外的至关重要性,本文讨论了当前系统生物学在概念和技术上的一些重要局限性。在简要总结分子细胞遗传学/细胞基因组学在基因组时代前后的贡献之后,探讨了后基因组研究面临的新挑战。这种讨论促使人们呼吁寻找新的概念框架和整体方法。
在整个综述过程中,与忽视核型介导的更高层次遗传信息的基因理论形成对比,体细胞进化的基因组理论得到了强调。由于“系统遗传”由基因组背景(基因内容和基因组拓扑结构)定义,而“部分遗传”由基因/表观基因定义,分子细胞遗传学和细胞基因组学(直接研究基因组结构、功能、改变和进化)将在这个后基因组时代发挥重要作用。