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Updated: Jun 4, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Where are the missing pieces of the schizophrenia genetics puzzle?
Simon L Girard1, Lan Xiong, Patrick A Dion
1Centre of Excellence in Neuromics of Université de Montréal, CHUM Research Center, Montreal, Quebec, H2L 4M1, Canada.
Abstract:
On the basis of recent data from candidate region/gene and genome-wide association studies (GWAS) and their follow-up investigations, the number of genes potentially implicated in schizophrenia has been estimated to be over 1000. However, with regard to the identified odds ratio, it is likely that genetic variants with more definitive effect on schizophrenia phenotype are still missing. The hunt therefore remains open for the genetic variants that would explain the majority of the missing heritability of schizophrenia. This review aims at summarizing data from recent DNA microarray and target gene/region resequencing in order to propose new insights of where to look next. The review is divided into three sections: GWAS, copy-number variations and rare variant--candidate gene resequencing.
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