Article
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Scientific reports - 18 Jul 2017
Al-Mubarak Bashayer, Abouelhoda Mohamed, Omar Aisha, AlDhalaan Hesham, Aldosari Mohammed, Nester Michael, Alshamrani Hussain A, El-Kalioby Mohamed, Goljan Ewa, Albar Renad, Subhani Shazia, Tahir Asma, Asfahani Sultana, Eskandrani Alaa, Almusaiab Ahmed, Magrashi Amna, Shinwari Jameela, Monies Dorota, Al Tassan Nada
Abstract excerpt
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted...
Topics
- Autism Spectrum Disorder
- Consanguinity
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Mutation
- Neurodevelopmental Disorders
- Saudi Arabia