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. Of these 250 children, about 25% were identified to have a genetic change that explained their diagnosis; including one child with intellectual disability and autism who had a change in the DYRK1A gene that was not inherited from either parent (de novo).