DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks
Xiaoxu Yang, Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung, Jiawei Shen, Chen Li, Renee D. George, Yifan Wang, Taejeong Bae, Yuhe Cheng, Alexej S. Abyzov, Liping Wei, Ludmil B. Alexandrov, , Sarah B. Emery
DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.
Nature Biotechnology · Jan 2, 2023Peer-reviewedGenomics