Highly Performing Automatic Detection of Structural Chromosomal Abnormalities Using Siamese Architecture

•We describe a novel technique for detecting structural chromosomal abnormalities.•The Siamese architecture that we use mimics how human operators detect abnormalities.•This machine learning method takes as inputs both copies of each chromosome pair.•The method detects changes in the banding pattern of the chromosomes of a given pair.•We identify adapted margins of the contrastive loss function for the Siamese training.