Researchers are improving the ability of algorithms to help spot the physical characteristics of conditions such as Cornelia de Lange syndrome.Credit: Michael Ares/The Palm Beach Post via ZUMA A deep-learning algorithm is helping doctors and researchers to pinpoint a range of rare genetic disorders by analysing pictures of people's faces. In a paper1 published on 7 January in Nature Medicine, researchers describe the technology behind the diagnostic aid, a smartphone app called Face2Gene. It relies on machine-learning algorithms and brain-like neural networks to classify distinctive facial features in photos of people with congenital and neurodevelopmental disorders. Using the patterns that it infers from the pictures, the model homes in on possible diagnoses and provides a list of likely options. Doctors have been using the technology as an aid, even though it's not intended to provide definitive diagnoses.

Modern biotechnologies often result in high-dimensional data sets with much more variables than observations (n $\ll$ p). These data sets pose new challenges to statistical analysis: Variable selection becomes one of the most important tasks in this setting. We assess the recently proposed flexible framework for variable selection called stability selection. By the use of resampling procedures, stability selection adds a finite sample error control to high-dimensional variable selection procedures such as Lasso or boosting. We consider the combination of boosting and stability selection and present results from a detailed simulation study that provides insights into the usefulness of this combination. Limitations are discussed and guidance on the specification and tuning of stability selection is given. The interpretation of the used error bounds is elaborated and insights for practical data analysis are given. The results will be used to detect differentially expressed phenotype measurements in patients with autism spectrum disorders. All methods are implemented in the freely available R package stabs.