J. (Gus) Gustafson from the University of Washington spoke at the Nanopore Community Meeting in Boston about “needLR: a structural variant filtering and prioritization tool for long-read sequencing data.” They noted that half of suspected Mendelian conditions remain undiagnosed after current clinical testing methods. The Miller Lab at the University of Washington uses Oxford Nanopore sequencing to discover pathogenic structural variants in unsolved genetic causes. Gustafson spoke about a cohort of multiple individuals with a clinical diagnosis of Canavan disease but no molecular diagnosis. The team is using the 1000 Genomes Project to create a catalog of SVs present in healthy individuals when providing samples. The team is releasing a publication on high-coverage, high-N50 Nanopore sequencing of samples from the 100 Genomes Project. However, structural variants can be difficult to merge. Within individuals or between individuals, they can have different representations that complicate merging. A group at Johns Hopkins created the Jasmine tool for SV merging. Gustafson helped write this tool. The needLR tool was named after the Space Needle and the need for long-read sequencing. The tool uses the merging done by Jasmine and compiles information. The team has the goal of 500 Oxford Nanopore 1000 Genomes Project samples by the end of 2024, and Gustafson wants to incorporate other data and compatibility into needLR.
