Copy number variations (CNVs) are a pervasive form of genomic variation that entail duplications or deletions of DNA segments ranging from kilobases to megabases. In animal genomes, CNVs contribute ...

"Our study demonstrates that incorporating copy number variant analysis into exome sequencing workflows increases diagnostic yield in diverse pediatric cohorts," Dr. Ji explains. This approach ...

Epilepsy is not one disease. It is a constellation of seizure disorders that affects approximately 50 million people globally and carries increased mortality, psychiatric comorbidity, and, for roughly ...

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 ...

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 ...

Genetic ancestry plays a key role in determining the behavior of head and neck tumors and may help explain why African-American patients survive for half as long as their counterparts of European ...

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 ...