"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 ...

We learn that we inherit two copies of every gene, one from each of our parents, but the story is a bit more complex. Some parts of the genome may be duplicated, or deleted, in some people. The number ...

The evolution of the MUC7 gene, which encodes a saliva protein, was studied by scientists at the University at Buffalo. To capture the gene’s proline-, threonine-, and serine-rich tandem repeat copy ...