"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 ...

Various approaches have been developed to identify and quantitate copy-number variation. A new, high-resolution approach that already shows promise is digital PCR. As illustrated by many research ...

A team of researchers, including Dr. Charity Morgan, associate professor in the Department of Biostatistics in the School of Public Health at the University of Alabama at Birmingham, collaborated and ...