Genetic studies have helped to confirm the high heritability and within family recurrence risk of some neurodevelopmental disorders, such as autism and schizophrenia8–11. Improvements in genome sequencing have enabled numerous genome-wide association studies, candidate gene discoveries and exome-sequencing studies12–21. However, these genomic studies can identify loci that contribute to disease risk, but do not assess the functional consequences of genetic variants. Transcriptome analyses are able to assess these functional consequences to some degree, but are subject to environmental influence and other confounding variables. Furthermore, brain transcriptome studies cannot distinguish between primary causes and secondary consequences of disease. Ideally, genetic studies should, therefore, involve simultaneous transcriptome and genome analyses in a disease-relevant tissue, and should not be limited by the availability of disease-relevant tissue in the form of autopsy specimens from patients with neurodevelopmental disorders 22.
