Medical Xpress September 25, 2024
Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the population, the influence on the presentation of certain pathological traits has so far been difficult to determine.
Researchers from the German Cancer Research Center (DKFZ), the European Molecular Biology Laboratory (EMBL) and the Technical University of Munich have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants.
The paper, “Integration of Variant annotations using deep set networks boosts rare variant testing,” has been published in Nature Medicine .
The method allows persons with high risk of disease to be distinguished...
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