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Updated: May 25, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Disease gene identification strategies for exome sequencing

Christian Gilissen1, Alexander Hoischen, Han G Brunner

  • 1Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. c.gilissen@antrg.umcn.nl

European Journal of Human Genetics : EJHG
|January 20, 2012
PubMed
Summary

Next-generation sequencing, including exome sequencing, is a powerful tool for identifying Mendelian disease genes. This approach successfully identifies new genes in about 60% of projects, with improvements expected.

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