基于深度学习的方法可自动准确地组装染色体级基因组

IF 16.6 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Nucleic Acids Research Pub Date : 2024-09-17 DOI:10.1093/nar/gkae789
Zijie Jiang, Zhixiang Peng, Zhaoyuan Wei, Jiahe Sun, Yongjiang Luo, Lingzi Bie, Guoqing Zhang, Yi Wang
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引用次数: 0

摘要

高通量染色体构象捕获(Hi-C)技术的应用使染色体级组装的构建成为可能。然而,装配中的错误纠正和序列与染色体的锚定仍然是重大挑战。在这项研究中,我们开发了一种基于深度学习的方法 AutoHiC,通过提高连续性和准确性来应对染色体级基因组组装中的挑战。传统的Hi-C辅助脚手架通常需要人工完善,而AutoHiC则利用Hi-C数据进行自动工作流和迭代纠错。在对来自 300 多个物种的数据进行训练后,AutoHiC 显示出超过 90% 的强大平均错误检测准确率。基准测试结果证实了它对基因组连续性和纠错的重大影响。AutoHiC 的创新方法和全面结果是自动错误检测领域的一个突破,有望为推进基因组学研究提供更准确的基因组组装。
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A deep learning-based method enables the automatic and accurate assembly of chromosome-level genomes
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.
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来源期刊
Nucleic Acids Research
Nucleic Acids Research 生物-生化与分子生物学
CiteScore
27.10
自引率
4.70%
发文量
1057
审稿时长
2 months
期刊介绍: Nucleic Acids Research (NAR) is a scientific journal that publishes research on various aspects of nucleic acids and proteins involved in nucleic acid metabolism and interactions. It covers areas such as chemistry and synthetic biology, computational biology, gene regulation, chromatin and epigenetics, genome integrity, repair and replication, genomics, molecular biology, nucleic acid enzymes, RNA, and structural biology. The journal also includes a Survey and Summary section for brief reviews. Additionally, each year, the first issue is dedicated to biological databases, and an issue in July focuses on web-based software resources for the biological community. Nucleic Acids Research is indexed by several services including Abstracts on Hygiene and Communicable Diseases, Animal Breeding Abstracts, Agricultural Engineering Abstracts, Agbiotech News and Information, BIOSIS Previews, CAB Abstracts, and EMBASE.
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