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 ...

Genome Nexus (1) aggregates variant information from sources that are relevant to cancer research and clinical applications, (2) allows high-performance programmatic access to the aggregated data via ...

ROCKVILLE, Md. – Dec. 13, 2022 – The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, has published a report that was designed to assess ...

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 ...

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 ...