Annotating genomes at increased scale and resolution

doi:10.1038/s41576-026-00937-3

2026-02-17

PRE

Hyun Joo Ji

Mihaela Pertea

Steven L. Salzberg *

DOI：10.1038/s41576-026-00937-3

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摘要

En 中文

基因组注释通过编目其基因、转录本、蛋白质以及DNA序列中的其他功能元件来捕获基因组的本质。准确的注释为从基础生物学到理解基因与疾病之间关联的各种下游分析和发现奠定了基础。在过去二十年中，高通量测序技术的进步使得对多样化基因组特征的捕获更快、更准确，并产生了前所未有规模的数据。与此同时，将这些数据转化为基因组注释证据的计算方法不断改进，导致了更优的自动化基因组注释系统的出现。因此，测序基因组数量的增长形成了一个正反馈循环，其中数据库搜索变得更加有效，共享序列模式也更为清晰地显现。这些进展是朝着注释许多功能尚未充分理解的基因（尤其是需要更多研究的非编码RNA基因）的功能迈出的有希望的步骤。在本综述中，Ji等人概述了快速发展的实验和计算方法如何实现基因结构和功能的改进及自动化注释，为研究人员提供了前所未有的规模和分辨率的基因组注释资源。

Keyword:

Genome informatics

Sequencing

Transcriptomics

Biomedicine

general

Human Genetics

Cancer Research

Agriculture

Gene Function

Animal Genetics and Genomics

期刊

Nature Reviews Genetics

IF:

论文数:

4.0K

被引数:

4.3W

机构

johns hopkins university

学者数:

1.1W

论文数: 4.1K

被引数: 1

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