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Updated: Aug 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Psychiatric diagnoses in the context of genetic studies of bipolar disorder
Abstract:
Precise definition of the phenotype is an issue of critical importance for the future success of genetic studies of bipolar disorders. So far, an uncertain phenotypic spectrum and genetic heterogeneity are realities that have hampered progress in genetic studies. While recognition of a broader spectrum of related illnesses is important for some applications, for genetic studies a narrow spectrum of illness closely tied to the genotype is paramount. This paper highlights current dilemmas and trends associated with phenotype specification and traces historical approaches. Finally, we explore a number of strategic directions in the diagnostic approach to bipolar disorders that may better serve genetic studies.
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