Tuan Viet Nguyen, a research scientist from Agriculture Victoria in Australia, presented at London Calling 2023 on “Discovering the missing variation: a long-read sequencing study into the structural variation in two dairy breeds.” They defined structural variants (SVs) as larger than 50 bps and can be deletions, duplications, and inversions. Structural variants, Nguyen noted, are largely unexplored in animals and can cause complex traits and disorders. Nguyen described the Bovine Long Read Consortium to improve the understanding of traits of animals. The consortium is attempting to deploy a Nextflow workflow called VALOR. They sequenced 40 individuals: 20 Holstein and 20 Jersey using PromethION 9.4.1 and 10.4.1 flow cells. Nguyen noted that longer SV are usually more harmful and subject to negative selection. The data generated helped identify SV examples found exclusively in different breeds. Nguyen concluded that long read is a powerful tool to characterize SVs. In the future, they want to phase and impute structural variants with their analyses.
