23 March 2020

AI Finds Disease-Related Genes

An artificial neural network can reveal patterns in huge amounts of gene expression data, and discover groups of disease-related genes. The scientists hope that the method can eventually be applied within precision medicine and individualised treatment. The researchers used AI to investigate whether it is possible to discover biological networks using deep learning, in which entities known as artificial neural networks are trained by experimental data. Since artificial neural networks are excellent at learning how to find patterns in enormous amounts of complex data, they are used in applications such as image recognition. However, this machine learning method has until now seldom been used in biological research. The scientists used a large database with information about the expression patterns of 20,000 genes in a large number of people. 


The information was unsorted, and the AI model was then trained to find patterns of gene expression. When they analysed their neural network, it turned out that the first hidden layer represented to a large extent interactions between various proteins. Deeper in the model, they found groups of different cell types. The scientists then investigated whether their model of gene expression could be used to determine which gene expression patterns are associated with disease and which is normal. They confirmed that the model finds relevant patterns that agree well with biological mechanisms in the body. Since the model has been trained using unclassified data, it is possible that the artificial neural network has found totally new patterns. The researchers plan now to investigate whether such, previously unknown patterns, are relevant from a biological perspective.

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