Discovering the missing variation: a long read sequencing study into the structural variation in two dairy breeds
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Structural variants (SVs) play a substantial role in the evolution of species and have an impact on Mendelian and quantitative traits in mammals. However, SVs have been challenging to accurately identify and genotype at population scale using short-read sequencing. Long-read sequencing technologies are becoming competitively priced and can address several of the disadvantages of short-read for the discovery and genotyping of SVs. In this study, we ran a pilot population scale study to catalogue the SVs in a cohort of Holstein & Jersey cattle.