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FIGENIX:基因组注释的智能自动化:新软件平台中的专业知识整合

FIGENIX: intelligent automation of genomic annotation: expertise integration in a new software platform.

作者信息

Gouret Philippe, Vitiello Vérane, Balandraud Nathalie, Gilles André, Pontarotti Pierre, Danchin Etienne G J

机构信息

EA 3781 EGEE (Evolution, Genome, Environment), Université de Provence, Case 36, Pl. V. Hugo, 13331 Marseille Cedex 03, France.

出版信息

BMC Bioinformatics. 2005 Aug 5;6:198. doi: 10.1186/1471-2105-6-198.

DOI:10.1186/1471-2105-6-198
PMID:16083500
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1188056/
Abstract

BACKGROUND

Two of the main objectives of the genomic and post-genomic era are to structurally and functionally annotate genomes which consists of detecting genes' position and structure, and inferring their function (as well as of other features of genomes). Structural and functional annotation both require the complex chaining of numerous different software, algorithms and methods under the supervision of a biologist. The automation of these pipelines is necessary to manage huge amounts of data released by sequencing projects. Several pipelines already automate some of these complex chaining but still necessitate an important contribution of biologists for supervising and controlling the results at various steps.

RESULTS

Here we propose an innovative automated platform, FIGENIX, which includes an expert system capable to substitute to human expertise at several key steps. FIGENIX currently automates complex pipelines of structural and functional annotation under the supervision of the expert system (which allows for example to make key decisions, check intermediate results or refine the dataset). The quality of the results produced by FIGENIX is comparable to those obtained by expert biologists with a drastic gain in terms of time costs and avoidance of errors due to the human manipulation of data.

CONCLUSION

The core engine and expert system of the FIGENIX platform currently handle complex annotation processes of broad interest for the genomic community. They could be easily adapted to new, or more specialized pipelines, such as for example the annotation of miRNAs, the classification of complex multigenic families, annotation of regulatory elements and other genomic features of interest.

摘要

背景

基因组和后基因组时代的两个主要目标是对基因组进行结构和功能注释,包括检测基因的位置和结构,并推断其功能(以及基因组的其他特征)。结构和功能注释都需要在生物学家的监督下,将众多不同的软件、算法和方法进行复杂的链接。这些流程的自动化对于管理测序项目释放的大量数据是必要的。已有多个流程实现了其中一些复杂链接的自动化,但在各个步骤中仍需要生物学家做出重要贡献来监督和控制结果。

结果

在此,我们提出了一个创新的自动化平台FIGENIX,它包括一个专家系统,能够在几个关键步骤中替代人类专业知识。FIGENIX目前在专家系统的监督下,自动化结构和功能注释的复杂流程(例如允许做出关键决策、检查中间结果或完善数据集)。FIGENIX产生的结果质量与专家生物学家获得的结果相当,在时间成本方面有大幅提升,并且避免了由于人工处理数据而产生的错误。

结论

FIGENIX平台的核心引擎和专家系统目前处理基因组学界广泛关注的复杂注释过程。它们可以很容易地适应新的或更专门的流程,例如miRNA注释、复杂多基因家族分类、调控元件注释以及其他感兴趣的基因组特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/99d56168f14b/1471-2105-6-198-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/4432b229ee80/1471-2105-6-198-1.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/fd5b95c5c2b5/1471-2105-6-198-3.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/ccd17c916adc/1471-2105-6-198-5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/99d56168f14b/1471-2105-6-198-6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/4432b229ee80/1471-2105-6-198-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/7b094ec42c35/1471-2105-6-198-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/fd5b95c5c2b5/1471-2105-6-198-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d73f/1188056/74eec9e5e0b6/1471-2105-6-198-4.jpg
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