Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes.

Abstract excerpt

Gene-dosage combinations have been recognised as leading factors of disease. Given that those combinations may include dozens of genes, it is hypothesised that machine learning (ML) approaches may be useful in the classification of cases and controls and the identification of causative genes. We aimed to assess the validity of this hypothesis. Here, we have constructed a benchmark that includes real data (with...

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