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, whole-exome sequencing was used to search for genetic causes of unexplained developmental delay, intellectual disability, and neurological differences in 250 children. About 25% of these children, including two children with ARID1B changes, were found to have a genetic change that explained their diagnosis. Physical, behavioral, and intellectual characteristics of these children were not described.

Seven people, including the two people with changes in ARID1B, would not have received a diagnosis if this study had been conducted before 2012, when new research reports became available.