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A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population. Hum Genet 137, 85-94 (2018).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).