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Dialogues Clin Neurosci. 2015 Mar;17(1):69-78.

Genetic and genomic analyses as a basis for new diagnostic nosologies.

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Department of Psychiatry and Behavioral Neuroscience; Department of Human Genetics, University of Chicago, Illinois, USA.
Department of Psychiatry and Behavioral Neuroscience; University of Chicago, Illinois, USA.


in English, French, Spanish

For schizophrenia, bipolar disorder, and autism, clinical descriptions are precise and reliable, but there is great overlap among diagnoses in associated genetic polymorphisms and rare variants, treatment response, and other phenomenological findings such as brain imaging. It is widely hoped that new diagnostic categories can be developed which are more precise and predictive of important features of illness, particularly response to pharmacological agents. It is the intent of this paper to describe the diagnostic implications of some current genetic findings, and to describe how the genetic associations with diagnosis may be teased apart into new associations with biologically coherent diagnostic entities and scales, based on the various functional aspects of the associated genes and functional genomic data.


autism; bipolar disorder; diagnosis; disease; genetic; genomic; network; schizophrenia

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