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PseudoChecker:一个用于基因失活推断的集成在线平台。

PseudoChecker: an integrated online platform for gene inactivation inference.

机构信息

CIIMAR-Interdisciplinary Centre of Marine and Environmental Research, U. Porto-University of Porto, Matosinhos, 4450-208, Portugal.

CRACS & INESC-TEC Department of Computer Science, FCUP, Porto, 4169-007, Portugal.

出版信息

Nucleic Acids Res. 2020 Jul 2;48(W1):W321-W331. doi: 10.1093/nar/gkaa408.

Abstract

The rapid expansion of high-quality genome assemblies, exemplified by ongoing initiatives such as the Genome-10K and i5k, demands novel automated methods to approach comparative genomics. Of these, the study of inactivating mutations in the coding region of genes, or pseudogenization, as a source of evolutionary novelty is mostly overlooked. Thus, to address such evolutionary/genomic events, a systematic, accurate and computationally automated approach is required. Here, we present PseudoChecker, the first integrated online platform for gene inactivation inference. Unlike the few existing methods, our comparative genomics-based approach displays full automation, a built-in graphical user interface and a novel index, PseudoIndex, for an empirical evaluation of the gene coding status. As a multi-platform online service, PseudoChecker simplifies access and usability, allowing a fast identification of disruptive mutations. An analysis of 30 genes previously reported to be eroded in mammals, and 30 viable genes from the same lineages, demonstrated that PseudoChecker was able to correctly infer 97% of loss events and 95% of functional genes, confirming its reliability. PseudoChecker is freely available, without login required, at http://pseudochecker.ciimar.up.pt.

摘要

高质量基因组组装的快速扩展,以正在进行的基因组 10K 和 i5k 等计划为例,需要新的自动化方法来进行比较基因组学研究。在这些方法中,作为进化新颖性来源的基因编码区失活突变(或假基因化)研究大多被忽视。因此,需要一种系统、准确和计算自动化的方法来解决此类进化/基因组事件。在这里,我们提出了 PseudoChecker,这是第一个用于基因失活推断的集成在线平台。与少数现有的方法不同,我们基于比较基因组学的方法具有完全自动化、内置图形用户界面和一个新的索引 PseudoIndex,用于对基因编码状态进行经验评估。作为一个多平台在线服务,PseudoChecker 简化了访问和可用性,允许快速识别破坏性突变。对先前报道在哺乳动物中被侵蚀的 30 个基因和来自同一谱系的 30 个存活基因的分析表明,PseudoChecker 能够正确推断 97%的缺失事件和 95%的功能基因,证实了其可靠性。PseudoChecker 可免费使用,无需登录,网址为 http://pseudochecker.ciimar.up.pt。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/458a/7319564/f7de9d0cdd86/gkaa408fig1.jpg

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