NCM 2022: Rapid structural variant calling across AllOfUs using Oxford Nanopore sequencing

AllOfUs is an important endeavor in the USA to characterize thousands of people to improve clinical sequencing and interpretation. As part of this project, we started to sequence individuals using long-read sequencing from Oxford Nanopore Technologies. We improved Sniffles, our structural variation (SV) caller, to be able to analyze the high number of genomes from this project or others. These improvements include not only greater speed and accuracy but also population/cohort analysis as well as mosaic and somatic SV calling improvements. I will give an update on our AllOfUs program and describe the important updates on Snifflesv2 and their implications for other ongoing projects.