Genetics

New research examines how WGS can improve the diagnosis of rare disease in pediatric patients

Patients whose multiple myeloma has three-gene signature are likely to benefit

This third-generation sequencing tool may simplify genetic sample processing and decrease analysis time

A recently-published review found that NIPS tests accurately detect common genetic conditions in general-risk pregnancies

Genetic and clinical research reveals new type of macular dystrophy, a cause of central vision loss

Early genetic testing and precise treatment result in lower length of stay in hospital

For tests to be clinically useful for non-European groups better recruitment of underrepresented populations is needed

Researchers theorize that disruption in visual processing could change how infants interact with, learn from caregivers

New study is an important milestone in developing genetic risk scores

Implementing in-house NGS testing at a community hospital provides patients access to targeted lifesaving treatments