Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph

Minimap2: pairwise alignment for nucleotide sequences

Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

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

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Assembly of long, error-prone reads using repeat graphs

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Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

Nature Methods · 2021 · 5.5K citations · Full text

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The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie et al. · Science · 2022 · 3.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15