人类基因组及其即将到来的动态。

Genome dynamics Pub Date : 2006-01-01 DOI:10.1159/000095083
M Platzer
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引用次数: 6

摘要

人类基因组的绘制、测序和分析是生物医学研究的一个里程碑,也是自我认识的一个基本进步。由于该序列旨在作为生物医学研究的普遍和永久基础,因此国际上进行了巨大的努力,以达到尽可能高的准确性和完整性。目前24个DNA分子的组装覆盖了约99%的常染色部分。包括间隙在内,常染色质约为2.88 Gb,人类基因组的总大小约为3.08 Gb。重复序列占人类基因组的一半以上。值得注意的是,片段重复的比例很高。直到最近,人们还认为,在一个普遍的参考序列中,微小的变异是人类个体特征的遗传基础。现在,有了几乎完整的参考资料,越来越明显的是,我们对基因组可塑性的概念必须从看似固定的人类片段复制扩展到个体间,大规模的结构多态性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The human genome and its upcoming dynamics.

The mapping, sequencing and analysis of the human genome is a milestone in biomedical research and a fundamental advance in self-knowledge. Because the sequence was intended to serve as a universal and permanent foundation of biomedical research, enormous international efforts were undertaken to reach the highest level of accuracy and completeness possible. The current assembly of the 24 DNA molecules covers approximately 99% of the euchromatic portion. Including gaps, the euchromatin is approximately 2.88 Gb and the overall size of the human genome approximately 3.08 Gb. Repeated sequences account for more than half of the human genome. Remarkable is the high proportion of segmental duplications. Until recently it was assumed that tiny variations in an otherwise universal reference sequence are the genetic bases of individual human traits. Now, with the nearly-complete reference in hands, it becomes increasingly evident, that our concept of genome plasticity has to be extended from seemingly fixed human segmental duplications to interindividual, large-scale structural polymorphisms.

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