ECOLE: Learning to call copy number variants on whole exome sequencing data
Berk Mandiracioglu, Furkan Özden, Gün Kaynar, Mehmet Alper Yılmaz, Can Alkan, A. Ercüment Çiçek
ECOLE is a deep learning model for detecting copy number variants in whole exome sequencing data, achieving improved precision and recall over existing methods.
Nature Communications · Jan 2, 2024Peer-reviewedBioinformatics