Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph PfundtMarisol Del RosarioLisenka E L M VissersMichael P KwintIrene M JanssenNicole de LeeuwHelger G YntemaMarcel R NelenDorien LugtenbergErik-Jan KamsteegNienke WieskampAlexander P A StegmannServi J C StevensRichard J T RodenburgAnnet SimonsArjen R MensenkampTuula RinneChristian GilissenHans SchefferJoris A VeltmanJayne Y Hehir-KwaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
This study shows that CNVs play an important role in a broad range of genetic disorders and that detection via exome-based CNV profiling results in an increase in the diagnostic yield without additional testing, bringing us closer to single-test genomics.Genet Med advance online publication 27 October 2016.