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Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

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Updated: May 2, 2026

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics

Annotation of Plant Gene Function via Combined Genomics, Metabolomics and Informatics

Published on: June 17, 2012

对于Arabidopsis thaliana的多个参考基因组和转录组.

Xiangchao Gan¹, Oliver Stegle, Jonas Behr

¹Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.

|August 30, 2011

概括

此摘要是机器生成的。

在Arabidopsis thaliana的遗传变异导致表型多样性. 重新注释基因组揭示了替代基因模型,揭示了重要的序列和表达差异,特别是在生物反应基因中.

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科学领域:

植物遗传学植物遗传学
基因组学就是基因组学.
分子生物学分子生物学

背景情况:

阿拉比多普西斯塔利亚纳的加入由于遗传差异而表现出显著的表型变异.
之前的研究主要使用Col-0参考加入进行解释.
了解跨自然连接的遗传多样性对于功能基因组学至关重要.

研究的目的:

为了测序,组装和注释18个自然Arabidopsis thaliana加入的基因组和转录组.
研究遗传变异对基因模型和基因表达的影响.
识别序列和表达变化的模式,特别是与环境反应有关的变化.

主要方法:

全基因组测序和组合18个Arabidopsis thaliana的加入.
转录组测序 (RNA-Seq) 用于基因表达分析.
比较基因组注释和重新注释以确定基因模型变异.

主要成果:

根据参考注释,三分之一的蛋白质编码基因似乎被破坏了,但重新注释往往会恢复编码潜力.
几乎一半的表达基因显示种子表达的差异,经常与cis变体联系在一起.
内部保留和替代拼接事件与cis变异相关;在生物反应基因中变异性最高.

结论:

重新注释对于准确解释自然加入中的遗传变异至关重要.
在Arabidopsis thaliana的加入中存在广泛的序列和表达变异,影响基因功能.
生成的数据和MAGIC群体将推动Arabidopsis的进化和功能研究.