Department of Molecular Genetics and Microbiology, Division of Human Genetics, Duke University School of Medicine, Durham, NC, 27710, USA.
Chromosome Res. 2020 Mar;28(1):1-5. doi: 10.1007/s10577-020-09629-y. Epub 2020 Mar 10.
As a scientist, one’s perspective of the human genome is informed by the way it is studied – at the level of single nucleotides, a single gene, a specific genomic region, an entire chromosome, the complete karyotype, or the nucleus that encompasses both the genome and the nuclear components that support genome structure, function, stability, and inheritance. Experimentally investigating aspects of genome structure and chromosome number and higher order packaging requires different technical approaches that offer varying levels of resolution. This special issue of Chromosome Research provides overviews of a few current methodologies to study chromosome and genome organization and function, with a particular focus on contemporary sequencing-based approaches.
作为一名科学家,对人类基因组的看法取决于研究的方式——从单个核苷酸、单个基因、特定基因组区域、整个染色体、完整的核型,到包含基因组和支持基因组结构、功能、稳定性和遗传的核成分的核。实验研究基因组结构和染色体数量以及更高阶包装的各个方面需要不同的技术方法,这些方法提供不同的分辨率。本期《染色体研究》特刊提供了几种当前研究染色体和基因组结构和功能的方法概述,特别关注基于当代测序的方法。