Bioinformatics · 2023 · 347 citations · 12 references
Life SciencesBioinformaticsBiologyComparative GenomicsGenome AssemblyGenomicsDe Novo Genome AssemblyGenome AlignmentSequence AssemblyAssembly BenchmarkingAssembly Completeness EvaluationAssembly Quality AssessmentBenchmarking Genome AssembliesCompletenessGenome Completeness AssessmentGenome Completeness EvaluationOrthologous Gene Analysis
MOTIVATION: Evaluating the gene completeness is critical to measuring the quality of a genome assembly. An incomplete assembly can lead to errors in gene predictions, annotation, and other downstream analyses. Benchmarking Universal Single-Copy Orthologs (BUSCO) is a widely used tool for assessing the completeness of genome assembly by testing the presence of a set of single-copy orthologs conserved across a wide range of taxa. However, BUSCO is slow particularly for large genome assemblies. It is cumbersome to apply BUSCO to a large number of assemblies. RESULTS: Here, we present compleasm, an efficient tool for assessing the completeness of genome assemblies. Compleasm utilizes the miniprot protein-to-genome aligner and the conserved orthologous genes from BUSCO. It is 14 times faster than BUSCO for human assemblies and reports a more accurate completeness of 99.6% than BUSCO's 95.7%, which is in close agreement with the annotation completeness of 99.5% for T2T-CHM13. AVAILABILITY AND IMPLEMENTATION: https://github.com/huangnengCSU/compleasm.
12
BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs
Felipe A. Simão, Robert M. Waterhouse, Panagiotis Ioannidis et al. · Bioinformatics · 2015 · 14.5K citations · Full text
QUAST: quality assessment tool for genome assemblies
Alexey Gurevich, Vladislav Saveliev, Nikolay Vyahhi et al. · Bioinformatics · 2013 · 11.5K citations · Full text
Assembly of long, error-prone reads using repeat graphs
Mikhail Kolmogorov, Jeffrey Yuan, Yu Lin et al. · Nature Biotechnology · 2019 · 6.3K citations
Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm
Nature Methods · 2021 · 5.5K citations · Full text
The complete sequence of a human genome
Sergey Nurk, Sergey Koren, Arang Rhie et al. · Science · 2022 · 3.3K citations · Full text