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

Zijie Jiang, Zhixiang Peng, Zhaoyuan Wei, Jiahe Sun, Yongjiang Luo, Lingzi Bie, Guoqing Zhang, Yi Wang

2024Nucleic Acids Research11 citationsDOIOpen Access PDF

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.

Topics & Concepts

ChromosomeGenomeContiguitySequence assemblyBiologyComputer scienceGenomicsError detection and correctionComputational biologyBenchmarkingWorkflowArtificial intelligenceData miningAlgorithmGeneticsGeneGene expressionEcologyMarketingTranscriptomeDatabaseBusinessGenomics and Phylogenetic StudiesChromosomal and Genetic VariationsPlant Virus Research Studies
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