"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 ...

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 ...

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 variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

For more than a century, Mendelian genetics has shaped how we think about inheritance: one gene, one trait. It is a model that still echoes through textbooks—and one that is increasingly reaching its ...