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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

JoVE Journal
Medicina

This content is Free Access.

JoVE Journal Medicina

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

DOI:

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05:51 min

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June 15, 2011

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Gauthier Julie, Fadi F. Hamdan, Guy A. Rouleau

¹Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal, ²Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers, Universite de Montreal, ³Department of Medicine, Universite de Montreal

Capítulos

00:05Título
00:50Selecting de novo Mutation Diseases and Appropriate Case Studies
02:05Selecting and Analyzing Candidate Genes
03:28Whole Exome Sequencing
04:00Genomic Variant Prioritization and Validation
05:00Identification of a Novel Schizophrenia Gene
05:34Conclusion

Summary

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Molecular genetic strategy for finding de novo mutations causing common disorders such as autism and schizophrenia.

Tags

De Novo Mutations Common Disorders Autism Schizophrenia Mutation Rate Linkage Gene Mapping Association Studies Monozygotic Twins Dizygotic Twins Reproductive Fitness Environmental Factors Incidence Rate

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