An international team, including researchers from Mass General Brigham, has been searching for protective genetic variants in a family that includes more than 1,000 individuals who are genetically ...
A scientific story that began with a discovery in just one extraordinary patient is now panning out. In 2019, an international team that included researchers from two Mass General Brigham hospitals - ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...