Fritz Sedlazeck from Baylor College of Medicine spoke at the Nanopore Community Meeting in Boston on the “Detection of mosaic and somatic structural variants with Sniffles2.”Sedlazeck spoke about the advantages of long-read sequencing for structural variant detection. Their team is improving Sniffles2 for insertions and deletions and larger structural variants. Full structural variant genotyping requires SV calling, merging, and population VCF. The Sniffles2 team has improved merging. Sniffles2 has been used to resolve structural variants in MECP2 duplication syndrome (MDS). STIX is a new form of population frequency annotations for all types of SVs. MECP2 has some complex variants that Sniffles2 can detect but not yet accurately “call.” Sedlazeck is also interested in somatic SVs and human disease: they are interested in low-frequency variants. Sedlazeck shared data for Sniffles2 precision and recall. Now, the team is asking about the population frequency of this mosaic deletion. The team continues to work on software updates and apply them to different datasets.
