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Obtaining models that capture imaging markers relevant for disease progression and treatment monitoring is challenging. Models are typically based on large amounts of data with annotated examples of known markers aiming at automating detection. High annotation effort and the limitation to a vocabulary of known markers limit the power of such approaches. Here, we perform unsupervised learning to identify anomalies in imaging data as candidates for markers. We propose AnoGAN, a deep convolutional generative adversarial network to learn a manifold of normal anatomical variability, accompanying a novel anomaly scoring scheme based on the mapping from image space to a latent space. Applied to new data, the model labels anomalies, and scores image patches indicating their fit into the learned distribution. Results on optical coherence tomography images of the retina demonstrate that the approach correctly identifies anomalous images, such as images containing retinal fluid or hyperreflective foci.

The identification and quantification of markers in medical images is critical for diagnosis, prognosis and management of patients in clinical practice. Supervised- or weakly supervised training enables the detection of findings that are known a priori. It does not scale well, and a priori definition limits the vocabulary of markers to known entities reducing the accuracy of diagnosis and prognosis. Here, we propose the identification of anomalies in large-scale medical imaging data using healthy examples as a reference. We detect and categorize candidates for anomaly findings untypical for the observed data. A deep convolutional autoencoder is trained on healthy retinal images. The learned model generates a new feature representation, and the distribution of healthy retinal patches is estimated by a one-class support vector machine. Results demonstrate that we can identify pathologic regions in images without using expert annotations. A subsequent clustering categorizes findings into clinically meaningful classes. In addition the learned features outperform standard embedding approaches in a classification task.