Comprehensive structural variant detection: from population to mosaic level

Abstract

Constant advancements of Oxford Nanopore technology both in cost and error rates are transforming it into a workhorse of genomics analysis, capable of identifying SNVs, structural variants, and methylation. We developed Sniffles2, a successor to SV-detection method Sniffles. Sniffles2 increases both accuracy (e.g. genotype, insertion detection) and speed, and has more advanced functionality (e.g. population and somatic SV calling) to further promote new insights into the organism or diseases. In addition, we will report on novel development together with Oxford Nanopore to further improve our characterisation of genomic variations across single cells at scale and provide insights into the current understanding of disease-driving genomic variations.