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Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
Genomic Analysis in the Age of Human Genome Sequencing. Cell 177, 70-84 (2019).
The impact of structural variation on human gene expression. Nat Genet 49, 692-699 (2017).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
svtools: population-scale analysis of structural variation. Bioinformatics 35, 4782-4787 (2019).