Fritz Sedlazeck from Baylor COllege of Medicine & Rice University, presented at the Nanopore Community Meeting in Singapore on “Comprehensive structural and copy number variant detection: from mosaic to population-level.” Sedlazeck and their team have developed numerous tools for structural variation (SV) detection. SV, Sedlazeck noted, are fewer than SNP but have profound impacts. Long reads can help detect structural variants with repetitive regions. Sniffles2 has improved performance. Sedlazeck is excited about full SV genotyping in population-level samples. They tested Sniffles2 resolving SVs in MECP2 duplication cases. They have also identified tumor variants and applied the tool to a Han Chinese population study. Sniffels2 is also being applied to the Gregor, All of Us, and Emirates G42 projects. Sedlazeck and team are using Sniffles 2 mosaic mode to identify somatic SVs. They first tried simulated data spiking in a genome. Then they tried to detect a rare neurodegenerative disorder. The team is now using brain samples to detect structural variants. Sedlazeck and team are working to identify methylation signatures and extract these features for analysis of variants. I had not realized the extent of structural variants and their impact on disease and genetic diversity. Sedlazeck’s team is working with several collaborators to implement and test SV detection pipelines.
