"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 ...

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 ...

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses. A new study of 500,000 individuals indicates that people who have more copies ...

A breakthrough method for analyzing the DNA of centuries-old plant samples has given scientists an edge in combating the spread of invasive plants. Researchers from Monash University and the ...

Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide ...