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Assembly of chromosome-scale contigs by efficiently resolving repetitive sequences with long reads

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The abundant repetitive sequences in complex eukaryotic genomes cause fragmented assemblies, which lose value as reference genomes, often due to incomplete gene sequences and unanchored or mispositioned contigs on chromosomes.… Click to show full abstract

The abundant repetitive sequences in complex eukaryotic genomes cause fragmented assemblies, which lose value as reference genomes, often due to incomplete gene sequences and unanchored or mispositioned contigs on chromosomes. Here we report a genome assembly method HERA, which resolves repeats efficiently by constructing a connection graph from an overlap graph. We test HERA on the genomes of rice, maize, human, and Tartary buckwheat with single-molecule sequencing and mapping data. HERA correctly assembles most of the previously unassembled regions, resulting in dramatically improved, highly contiguous genome assemblies with newly assembled gene sequences. For example, the maize contig N50 size reaches 61.2 Mb and the Tartary buckwheat genome comprises only 20 contigs. HERA can also be used to fill gaps and fix errors in reference genomes. The application of HERA will greatly improve the quality of new or existing assemblies of complex genomes. Repetitive sequences in complex eukaryote genomes can cause fragmented assemblies with incomplete gene sequences and unanchored or mispositioned contigs. Here, the authors report HERA, a method to improve genome assemblies by efficiently resolving repeats using single-molecule sequencing data.

Keywords: gene sequences; repetitive sequences; assembly chromosome; hera; genome; efficiently resolving

Journal Title: Nature Communications
Year Published: 2019

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