Machine learning-based prediction of human structural variation and characterization of associated sequence determinants
Daven Lim, Runyang Nicolas Lou, Nilah M. Ioannidis, Peter H. Sudmant
A sequence-only convolutional neural network and an annotation-based random forest predict human structural variant breakpoints from 400 bp windows (AUROC 0.903, 0.904); their ensemble reaches 0.916.