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下一代测序获得序列的计算基因组注释综述

Review on the Computational Genome Annotation of Sequences Obtained by Next-Generation Sequencing.

作者信息

Ejigu Girum Fitihamlak, Jung Jaehee

机构信息

Department of Information and Communication Engineering, Myongji University, Yongin-si 17058, Gyeonggi-do, Korea.

出版信息

Biology (Basel). 2020 Sep 18;9(9):295. doi: 10.3390/biology9090295.

Abstract

Next-Generation Sequencing (NGS) has made it easier to obtain genome-wide sequence data and it has shifted the research focus into genome annotation. The challenging tasks involved in annotation rely on the currently available tools and techniques to decode the information contained in nucleotide sequences. This information will improve our understanding of general aspects of life and evolution and improve our ability to diagnose genetic disorders. Here, we present a summary of both structural and functional annotations, as well as the associated comparative annotation tools and pipelines. We highlight visualization tools that immensely aid the annotation process and the contributions of the scientific community to the annotation. Further, we discuss quality-control practices and the need for re-annotation, and highlight the future of annotation.

摘要

下一代测序(NGS)使获取全基因组序列数据变得更加容易,并将研究重点转向了基因组注释。注释中涉及的具有挑战性的任务依赖于当前可用的工具和技术来解码核苷酸序列中包含的信息。这些信息将增进我们对生命和进化一般方面的理解,并提高我们诊断遗传疾病的能力。在这里,我们概述了结构注释和功能注释,以及相关的比较注释工具和流程。我们重点介绍了极大地辅助注释过程的可视化工具以及科学界对注释的贡献。此外,我们讨论了质量控制措施和重新注释的必要性,并突出了注释的未来发展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da06/7565776/38a4d83ae084/biology-09-00295-g001.jpg

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