关键词: Automation Chromosome instability Cytogenetic and cytogenomic technologies Genome architecture theory Genome chaos Karyotype coding

Mesh : Humans Genomics / methods Chromosome Mapping / methods

来  源:   DOI:10.1007/978-1-0716-3946-7_5

Abstract:
Optical genome mapping (OGM) has generated excitement following decades of research and development. Now, commercially available technical platforms have been used to compare various other cytogenetic and cytogenomic technologies, including karyotype, microarrays, and DNA sequencing, with impressive results. In this chapter, using OGM as a case study, we advocate for a new trend in future cytogenomics, emphasizing the power of machine automation to deliver higher-quality cytogenomic data. By briefly discussing OGM, along with its major advantages and limitations, we underscore the importance of karyotype-based genomic research, from both a theoretical framework and a new technology perspective. We also call for the encouragement of further technological platform development for the future of cytogenetics and cytogenomics.
摘要:
经过数十年的研究和开发,光学基因组作图(OGM)引起了人们的兴奋。现在,商业上可用的技术平台已用于比较各种其他细胞遗传学和细胞基因组技术,包括核型,微阵列,和DNA测序,令人印象深刻的结果。在这一章中,使用OGM作为案例研究,我们倡导未来细胞基因组学的新趋势,强调机器自动化的力量,以提供更高质量的细胞基因组数据。通过简要讨论OGM,除了它的主要优点和局限性,我们强调了基于核型的基因组研究的重要性,从理论框架和新技术角度来看。我们还呼吁鼓励为细胞遗传学和细胞基因组学的未来开发进一步的技术平台。
公众号