9. MODELLING THE IMPACT OF RARE AND COMMON VARIANTS IN SCHIZOPHRENIA USING STEM CELLS

ABSTRACT: Abstract Schizophrenia (SZ) is a debilitating psychiatric disorder for which the complex genetic mechanisms underlying the disease state remain unclear. Whereas highly penetrant variants have proven well-suited to human induced pluripotent stem cell (hiPSC)-based models, the power of hiPSC-based studies to resolve the much smaller effects of common variants within the size of cohorts that can be realistically assembled remains uncertain. Overall, we consider the successes and limitations in applying human induced pluripotent stem cell (hiPSC)-based models to study the impact of rare and common variants in SZ risk. To explore the neuronal impact of rare variants, we investigated the relationship between heterozygous 2p16.3 deletions, alternative splicing of NRXN1, and perturbations in neuro

SUBMITTER: Brennand K 

PROVIDER: S-EPMC6455771 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature