Mosaic copy number variation in schizophrenia

Douglas M. Ruderfer, Kim Chambert, Jennifer Moran, Michael Talkowski, Elizabeth S. Chen, Carolina Gigek, James F. Gusella, Douglas H. Blackwood, Aiden Corvin, Hugh M. Gurling, Christina M. Hultman, George Kirov, Patrick Magnusson, Michael C. O'Donovan, Michael J. Owen, Carlos Pato, David St Clair, Patrick F. Sullivan, Shaun M. Purcell, Pamela SklarCarl Ernst

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single-nucleotide polymorphism genotyping arrays for evidence of chromosomal anomalies. Data from genotyping arrays on each individual were processed using Birdsuite and analyzed with PLINK. We validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR. We estimate chromosomal alterations in the schizophrenia population to be 0.42%, which is not significantly different from controls (0.26%). We identified and validated a set of four extremely large (>10 Mb) chromosomal anomalies in subjects with schizophrenia, including a chromosome 8 trisomy and deletion of the q arm of chromosome 7. These data demonstrate that chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects.

Original languageEnglish
Pages (from-to)1007-1011
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number9
StatePublished - Sep 2013


  • SNP microarrays
  • copy number variation
  • mosaic
  • schizophrenia


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