The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...

Whether we are predisposed to particular diseases may depend to a large extent on variations in our genomes, but the influence on the presentation of certain pathological traits of genetic variants ...

Researchers have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants. The method allows persons with high risk of disease to be distinguished more ...

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 ...