Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
Original research article by Y. Yang et al. (2013).
Read the article here.
In this study, a test called whole-exome sequencing was used to search for genetic causes to unexplained developmental delay, intellectual disability, and neurological differences in 250 children. One child had a change in the ANKRD11 gene that is believed to be the cause of his intellectual disability.