TY  - JOUR
A1  - De Coster, Wouter
A1  - De Rijk, Peter
A1  - De Roeck, Arne
A1  - De Pooter, Tim
A1  - D'Hert, Svenn
A1  - Strazisar, Mojca
A1  - Sleegers, Kristel
A1  - Van Broeckhoven, Christine
T1  - Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
Y1  - 2019/07/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1178 
EP  - 1187 
DO  - 10.1101/gr.244939.118 
VL  - 29 
IS  - 7 
UR  - http://genome.cshlp.org/content/29/7/1178.abstract 
N2  - 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. 
ER  -