For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...

Lack of efficacy or adverse drug response are common phenomena in pharmacological therapy causing considerable morbidity and mortality. It is estimated that 20–30% of this variability in drug response ...

Reaching a conclusive classification of germline variants in hereditary cancer genes is an arduous and challenging task that requires the integration of diverse types of evidence, including population ...