The usefulness of whole-exome sequencing in routine clinical practice
Original research article by A. Iglesias et al. (2014).
Read the article here.
In this study, 115 people (mostly children, but some adults) were evaluated at Columbia University Medical Center and were tested using whole-exome sequencing to identify the causes of many different health problems (for example, birth defects, developmental delay, seizures, hearing loss, behavioral differences, heart problems). Diagnoses were made for 37 of the people (32.2%), including one child had changes in the ARID1B gene not inherited from either parent (de novo). This child was found to have developmental delay, a heart defect called hypoplastic left heart syndrome, and incomplete formation of a part of the brain called the corpus callosum.