Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations

Minimap2: pairwise alignment for nucleotide sequences

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

Life Sciences, Bioinformatics, Molecular Biology +17

NanoPack: visualizing and processing long-read sequencing data

Wouter De Coster, Svenn D’Hert, Darrin T. Schultz et al. · Bioinformatics · 2018 · 3.3K citations · Full text

Life Sciences, Bioinformatics, Biology +14

Resolving the complexity of the human genome using single-molecule sequencing

Mark Chaisson, John Huddleston, Megan Y. Dennis et al. · Nature · 2014 · 891 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

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

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

P. A. Jacobs, C.E. Browne, N. Gregson et al. · Journal of Medical Genetics · 1992 · 419 citations · Full text

Life Sciences, Genetics, Obstetrics +17