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Abstract：
The powerful utilities of current DNA sequencing technology question the value of developing clinical cytogenetics any further. By briefly reviewing the historical and current challenges of cytogenetics, the new conceptual and technological platform of the 21st century clinical cytogenetics is presented. Particularly, the genome architecture theory (GAT) has been used as a new framework to emphasize the importance of clinical cytogenetics in the genomic era, as karyotype dynamics play a central role in information-based genomics and genome-based macroevolution. Furthermore, many diseases can be linked to elevated levels of genomic variations within a given environment. With karyotype coding in mind, new opportunities for clinical cytogenetics are discussed to integrate genomics back into cytogenetics, as karyotypic context represents a new type of genomic information that organizes gene interactions. The proposed research frontiers include: 1. focusing on karyotypic heterogeneity (e.g., classifying non-clonal chromosome aberrations (NCCAs), studying mosaicism, heteromorphism, and nuclear architecture alteration-mediated diseases), 2. monitoring the process of somatic evolution by characterizing genome instability and illustrating the relationship between stress, karyotype dynamics, and diseases, and 3. developing methods to integrate genomic data and cytogenomics. We hope that these perspectives can trigger further discussion beyond traditional chromosomal analyses. Future clinical cytogenetics should profile chromosome instability-mediated somatic evolution, as well as the degree of non-clonal chromosomal aberrations that monitor the genomic system\'s stress response. Using this platform, many common and complex disease conditions, including the aging process, can be effectively and tangibly monitored for health benefits.
摘要：
当前DNA测序技术的强大效用质疑进一步发展临床细胞遗传学的价值。通过简要回顾细胞遗传学的历史和当前挑战，提出了21世纪临床细胞遗传学的新概念和技术平台。特别是,基因组结构理论（GAT）已被用作一个新的框架，以强调临床细胞遗传学在基因组时代的重要性，因为核型动力学在基于信息的基因组学和基于基因组的宏观进化中起着核心作用。此外，许多疾病可能与给定环境中基因组变异水平的升高有关。考虑到核型编码，讨论了将基因组学整合回细胞遗传学的新机会，因为核型背景代表了一种组织基因相互作用的新型基因组信息。提出的研究前沿包括：1.关注核型异质性(例如，分类非克隆染色体畸变（NCCAs），研究马赛克，异态,和核结构改变介导的疾病)，2.通过表征基因组不稳定性和说明胁迫之间的关系来监测体细胞进化的过程，核型动力学，和疾病，and3.开发整合基因组数据和细胞基因组学的方法。我们希望这些观点可以引发超越传统染色体分析的进一步讨论。未来的临床细胞遗传学应该描述染色体不稳定性介导的体细胞进化，以及监测基因组系统应激反应的非克隆染色体畸变程度。利用这个平台,许多常见和复杂的疾病，包括老化过程，可以有效和有形地监测健康益处。
