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 ...

Interpretation is the discipline through which molecular datasets reveal their significance. As the life sciences enter a new era defined by data richness and technological capacity, interpretive ...

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 ...

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 ...

Molecular tumor profiling is becoming a routine part of clinical cancer care, typically involving tumor-only panel testing without matched germline. We hypothesized that integrated germline sequencing ...