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一种基于深度学习的方法可以实现染色体水平基因组的自动、准确组装。

A deep learning-based method enables the automatic and accurate assembly of chromosome-level genomes.

机构信息

Integrative Science Center of Germplasm Creation in Western China (CHONGQING) Science City, Biological Science Research Center, Southwest University, Chongqing, China.

出版信息

Nucleic Acids Res. 2024 Oct 28;52(19):e92. doi: 10.1093/nar/gkae789.

DOI:10.1093/nar/gkae789
PMID:39287126
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11514472/
Abstract

The application of high-throughput chromosome conformation capture (Hi-C) technology enables the construction of chromosome-level assemblies. However, the correction of errors and the anchoring of sequences to chromosomes in the assembly remain significant challenges. In this study, we developed a deep learning-based method, AutoHiC, to address the challenges in chromosome-level genome assembly by enhancing contiguity and accuracy. Conventional Hi-C-aided scaffolding often requires manual refinement, but AutoHiC instead utilizes Hi-C data for automated workflows and iterative error correction. When trained on data from 300+ species, AutoHiC demonstrated a robust average error detection accuracy exceeding 90%. The benchmarking results confirmed its significant impact on genome contiguity and error correction. The innovative approach and comprehensive results of AutoHiC constitute a breakthrough in automated error detection, promising more accurate genome assemblies for advancing genomics research.

摘要

高通量染色体构象捕获(Hi-C)技术的应用使得构建染色体水平的组装成为可能。然而,在组装中纠正错误和将序列锚定到染色体仍然是重大挑战。在这项研究中,我们开发了一种基于深度学习的方法 AutoHiC,通过增强连续性和准确性来解决染色体水平基因组组装中的挑战。传统的基于 Hi-C 的支架构建通常需要手动细化,但 AutoHiC 则利用 Hi-C 数据进行自动化工作流程和迭代错误校正。在对来自 300 多种物种的数据进行训练后,AutoHiC 表现出超过 90%的稳健平均错误检测准确性。基准测试结果证实了它对基因组连续性和错误校正的重大影响。AutoHiC 的创新方法和全面结果在自动化错误检测方面取得了突破,有望为推进基因组学研究提供更准确的基因组组装。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/60b9991ff973/gkae789fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/43de268f8561/gkae789figgra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/eae54b41a537/gkae789fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/4012bdc88201/gkae789fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/0af9778e52d8/gkae789fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/8bd1d2f67d74/gkae789fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/42916197c15e/gkae789fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/60b9991ff973/gkae789fig6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/43de268f8561/gkae789figgra1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/eae54b41a537/gkae789fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/4012bdc88201/gkae789fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/0af9778e52d8/gkae789fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/8bd1d2f67d74/gkae789fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/42916197c15e/gkae789fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/150c/11514472/60b9991ff973/gkae789fig6.jpg

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NGenomeSyn: an easy-to-use and flexible tool for publication-ready visualization of syntenic relationships across multiple genomes.NGenomeSyn:一个易于使用且灵活的工具,用于发布准备就绪的跨多个基因组的同线性关系可视化。
Bioinformatics. 2023 Mar 1;39(3). doi: 10.1093/bioinformatics/btad121.
3
Modeling CRISPR-Cas13d on-target and off-target effects using machine learning approaches.
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Sci Data. 2025 Apr 22;12(1):670. doi: 10.1038/s41597-025-05019-3.
4
Chromosome-level genome assembly and annotation of the White-spotted spinefoot Siganus canaliculatus.斜带髭鲷染色体水平的基因组组装与注释
Sci Data. 2025 Mar 23;12(1):482. doi: 10.1038/s41597-025-04844-w.
利用机器学习方法对 CRISPR-Cas13d 的靶向和脱靶效应进行建模。
Nat Commun. 2023 Feb 10;14(1):752. doi: 10.1038/s41467-023-36316-3.
4
YaHS: yet another Hi-C scaffolding tool.YaHS:另一个 Hi-C 支架工具。
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5
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Genome Biol. 2022 Dec 15;23(1):258. doi: 10.1186/s13059-022-02823-7.
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