Precision medicine company Saphetor has built the world’s largest community and knowledge base for human genome variant identification, annotation, and interpretation. Through its open access platform ...

As sequencing costs decrease, the volume of whole genome sequencing (WGS) and whole exome sequencing (WES) continues to rise. Sequencing is just the first step. To provide the best results requires ...

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 ...

BGI Genomics has successfully wrapped up its inaugural Whole Exome Sequencing (WES) Interpretation of Genetic Diseases Training Workshop for Southeast Asia, marking a significant milestone in ...

Understanding how the wealth of genetic variation in the human genome impacts on disease could potentially transform healthcare, but while we know the consequences of perhaps a handful of specific ...