Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Minimap2: pairwise alignment for nucleotide sequences

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

Life Sciences, Bioinformatics, Molecular Biology +17

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

Real-time selective sequencing using nanopore technology

Matthew Loose, Sunir Malla, Michael B. Stout · Nature Methods · 2016 · 452 citations · Full text

Life Sciences, Biotechnology, Nanobiotechnology +7

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens et al. · Nature Communications · 2017 · 440 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17