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 ...

A more predictive, preventive approach to medicine can enable more accurate population-level risk assessments and predictions ...

Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype.

Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK ...

Researchers developed HELIX, an AI framework that predicts RNA splicing and isoform usage by integrating DNA and protein data ...

Understanding the Biology and Testing Techniques for Pharmacogenomics in Oncology: A Practical Guide for the Clinician Clinical practice guidelines may also provide algorithm-based guidance for use of ...

RBM20 truncating variants ( RBM20 tvs) appear to contribute to arrhythmogenic dilated cardiomyopathy (DCM) but with ...