Supervised machine learning tools: a tutorial for clinicians.

In an increasingly data-driven world, artificial intelligence is expected to be a key tool for converting big data into tangible benefits and the healthcare domain is no exception to this. Machine learning aims to identify complex patterns in multi-dimensional data and use these uncovered patterns to classify new unseen cases or make data-driven predictions. In recent years, deep neural networks have shown to be capable of producing results that considerably exceed those of conventional machine learning methods for various classification and regression tasks. In this paper, we provide an accessible tutorial of the most important supervised machine learning concepts and methods, including deep learning, which are potentially the most relevant for the medical domain. We aim to take some of the mystery out of machine learning and depict how machine learning models can be useful for medical applications. Finally, this tutorial provides a few practical suggestions for how to properly design a machine learning model for a generic medical problem.

Fully Automatic Landmarking of Syndromic 3D Facial Surface Scans Using 2D Images.

3D facial landmarks are known to be diagnostically relevant biometrics for many genetic syndromes. The objective of this study was to extend a state-of-the-art image-based 2D facial landmarking algorithm for the challenging task of 3D landmark identification on subjects with genetic syndromes, who often have moderate to severe facial dysmorphia. The automatic 3D facial landmarking algorithm presented here uses 2D image-based facial detection and landmarking models to identify 12 landmarks on 3D facial surface scans. The landmarking algorithm was evaluated using a test set of 444 facial scans with ground truth landmarks identified by two different human observers. Three hundred and sixty nine of the subjects in the test set had a genetic syndrome that is associated with facial dysmorphology. For comparison purposes, the manual landmarks were also used to initialize a non-linear surface-based registration of a non-syndromic atlas to each subject scan. Compared to the average intra- and inter-observer landmark distances of 1.1 mm and 1.5 mm respectively, the average distance between the manual landmark positions and those produced by the automatic image-based landmarking algorithm was 2.5 mm. The average error of the registration-based approach was 3.1 mm. Comparing the distributions of Procrustes distances from the mean for each landmarking approach showed that the surface registration algorithm produces a systemic bias towards the atlas shape. In summary, the image-based automatic landmarking approach performed well on this challenging test set, outperforming a semi-automatic surface registration approach, and producing landmark errors that are comparable to state-of-the-art 3D geometry-based facial landmarking algorithms evaluated on non-syndromic subjects.