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Computational predictors are increasingly used for interpretation of variation effects. The majority of novel tools are based on machine learning, methods that are trained to distinguish cases based on known examples. Performance is dependent on the data and the method implementation. In this issue, Grimm et al. (Hum Mutat 36:513‐523, 2015) evaluated systematically several tools and found that the performance of some methods drops when tested on independent data. As a cause, they indicate two types of circularity: type 1, due to using the same data for training and testing, and type 2, which occurs when many proteins contain just one type of variant, either pathogenic or neutral. If a method is trained and tested on the same data, it can be optimized for high performance. Machine learning methods use features to characterize the space of an investigated property. Features too specific for the training data reduce the method's ability to generalize.Human Mutation published guidelines for reporting and testing these kinds of methods (Hum Mutat 34:275‐282, 2013). One requirement is that the test and training data have to be disjoint. Systematic predictor performance assessment has to be based on benchmarks, datasets with known outcome. Such datasets are available at VariBench
Human Mutation – Wiley
Published: May 1, 2015
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