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Gene annotation: prediction and testing.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2003-10-07 , DOI: 10.1146/annurev.genom.4.070802.110300
Jennifer L Ashurst 1 , John E Collins
Affiliation  

Fifty years after the publication of DNA structure, the whole human genome sequence will be officially finished. This achievement marks the beginning of the task to catalogue every human gene and identify each of their function expression patterns. Currently, researchers estimate that there are about 30,000 human genes and approximately 70% of these can be automatically predicted using a combination of ab initio and similarity-based programs. However, to experimentally investigate every gene's function, the research community requires a high-quality annotation of alternative splicing, pseudogenes, and promoter regions that can only be provided by manual intervention. Manual curation of the human genome will be a long-term project as experimental data are continually produced to confirm or refine the predictions, and new features such as noncoding RNAs and enhancers have not been fully identified. Such a highly curated human gene-set made publicly available will be a great asset for the experimental community and for future comparative genome projects.

中文翻译:

基因注释:预测和测试。

DNA结构发表50年后,整个人类基因组序列将正式完成。这一成就标志着开始对每个人类基因进行分类并确定其每个功能表达模式的任务的开始。目前,研究人员估计大约有30,000个人类基因,其中约有70%可以使用从头算和基于相似性的程序结合起来自动预测。但是,为了实验研究每个基因的功能,研究界要求高质量的注释,包括只能通过人工干预才能提供的替代剪接,假基因和启动子区域。人类基因组的人工管理将是一项长期的项目,因为会不断产生实验数据来确认或完善预测,尚未完全识别出诸如非编码RNA和增强子等新功能。公开提供的这种高度精选的人类基因组对于实验界和未来的比较基因组计划将是一笔巨大的财富。
更新日期:2019-11-01
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