New research finds one copy of a protective genetic variant, APOE3 Christchurch, delayed onset of Alzheimer's disease for 27 members of a ~6,000-person family in Colombia at high risk for early-onset ...

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 - ...

Dr Aaron Wenger reveals how improvements in long-read sequencing technology is enabling the elucidation of complex disease ...

However, ES is not the first choice for detecting copy number variants (CNVs), which are typically deletions or duplications of DNA segments. CNVs cause a significant proportion of genetic disorders.

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 ...

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 ...