@article{De Coster01072019,
author = {De Coster, Wouter and De Rijk, Peter and De Roeck, Arne and De Pooter, Tim and D'Hert, Svenn and Strazisar, Mojca and Sleegers, Kristel and Van Broeckhoven, Christine}, 
title = {Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome},
volume = {29}, 
number = {7}, 
pages = {1178-1187}, 
year = {2019}, 
doi = {10.1101/gr.244939.118}, 
abstract ={We sequenced the genome of the Yoruban reference individual NA19240 on the long-read sequencing platform Oxford Nanopore PromethION for evaluation and benchmarking of recently published aligners and germline structural variant calling tools, as well as a comparison with the performance of structural variant calling from short-read sequencing data. The structural variant caller Sniffles after NGMLR or minimap2 alignment provides the most accurate results, but additional confidence or sensitivity can be obtained by a combination of multiple variant callers. Sensitive and fast results can be obtained by minimap2 for alignment and a combination of Sniffles and SVIM for variant identification. We describe a scalable workflow for identification, annotation, and characterization of tens of thousands of structural variants from long-read genome sequencing of an individual or population. By discussing the results of this well-characterized reference individual, we provide an approximation of what can be expected in future long-read sequencing studies aiming for structural variant identification.}, 
URL = {http://genome.cshlp.org/content/29/7/1178.abstract}, 
eprint = {http://genome.cshlp.org/content/29/7/1178.full.pdf+html}, 
journal = {Genome Research} 
}