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Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr 112, 57-65 (2020).
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (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).
Structural variant calling: the long and the short of it. Genome Biol 20, 246 (2019).
Simultaneous epitope and transcriptome measurement in single cells. Nat Methods 14, 865-868 (2017).