PT  - JOURNAL ARTICLE
AU  - Wouter De Coster
AU  - Arne De Roeck
AU  - Tim De Pooter
AU  - Svenn D’Hert
AU  - Peter De Rijk
AU  - Mojca Strazisar
AU  - Kristel Sleegers
AU  - Christine Van Broeckhoven
TI  - Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome
AID  - 10.1101/434118
DP  - 2018 Jan 01
TA  - bioRxiv
PG  - 434118
4099  - http://biorxiv.org/content/early/2018/10/03/434118.short
4100  - http://biorxiv.org/content/early/2018/10/03/434118.full
AB  - We sequenced the Yoruban NA19240 genome on the Oxford Nanopore PromethION for benchmarking and evaluation of recently published aligners and structural variant calling tools. In this work, we determined the precision and recall, present high confidence and high sensitivity call sets of variants and discuss optimal parameters. The aligner Minimap2 and structural variant caller Sniffles are both the most accurate and the most computationally efficient tools in our study. We describe our 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 genome we provide an approximation of what can be expected in future long read sequencing studies aiming for structural variant identification.