Readfish enables targeted nanopore sequencing of gigabase-sized genomes

Minimap2: pairwise alignment for nucleotide sequences

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

Life Sciences, Bioinformatics, Molecular Biology +17

Assembly of long, error-prone reads using repeat graphs

Mikhail Kolmogorov, Jeffrey Yuan, Yu Lin et al. · Nature Biotechnology · 2019 · 6.3K citations

Life Sciences, Bioinformatics, Computer Science +13

COSMIC: the Catalogue Of Somatic Mutations In Cancer

John Tate, Sally Bamford, Harry Jubb et al. · Nucleic Acids Research · 2018 · 5.3K citations · Full text

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Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain, Sergey Koren, Karen H. Miga et al. · Nature Biotechnology · 2018 · 2.1K citations · Full text

Life Sciences, Biology, Genetics +9

Accurate detection of complex structural variations using single-molecule sequencing

Fritz J. Sedlazeck, Philipp Rescheneder, Moritz Smolka et al. · Nature Methods · 2018 · 1.9K citations

Life Sciences, Molecular Biology, Molecular Genetics +15