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Research Article

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

  • Nori Matsunami equal contributor,

    equal contributor Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Dexter Hadley equal contributor,

    equal contributor Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Charles H. Hensel equal contributor,

    equal contributor Contributed equally to this work with: Nori Matsunami, Dexter Hadley, Charles H. Hensel

    Affiliation: Lineagen, Inc., Salt Lake City, Utah, United States of America

    X
  • G. Bryce Christensen,

    Affiliation: Golden Helix, Inc., Bozeman, Montana, United States of America

    X
  • Cecilia Kim,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Edward Frackelton,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Kelly Thomas,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Renata Pellegrino da Silva,

    Affiliation: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

    X
  • Jeff Stevens,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Lisa Baird,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Brith Otterud,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Karen Ho,

    Affiliation: Lineagen, Inc., Salt Lake City, Utah, United States of America

    X
  • Tena Varvil,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Tami Leppert,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Christophe G. Lambert,

    Affiliation: Golden Helix, Inc., Bozeman, Montana, United States of America

    X
  • Mark Leppert,

    Affiliation: Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America

    X
  • Hakon Hakonarson mail

    hakonarson@email.chop.edu

    Affiliations: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

    X
  • Published: January 14, 2013
  • DOI: 10.1371/journal.pone.0052239

About the Authors

Nori Matsunami, Jeff Stevens, Lisa Baird, Brith Otterud, Tena Varvil, Tami Leppert, Mark Leppert
Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
Dexter Hadley, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Hakon Hakonarson
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
Charles H. Hensel, Karen Ho
Lineagen, Inc., Salt Lake City, Utah, United States of America
G. Bryce Christensen, Christophe G. Lambert
Golden Helix, Inc., Bozeman, Montana, United States of America
Hakon Hakonarson
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Corresponding Author

Email: hakonarson@email.chop.edu

Competing Interests

Bryce Christensen and Christophe Lambert are paid employees of Golden Helix Inc., which derives commercial revenue from the SNP & Variation Suite software used for data analysis for this publication. Nori Matsunami, Charles Hensel and Mark Leppert have stock options in Lineagen, Inc. These affiliations do not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: NM DH CHH GBC CGL ML HH. Performed the experiments: CK EF KT RPdS JS LB BO TV. Analyzed the data: NM DH CHH GBC KH TL CGL ML HH. Contributed reagents/materials/analysis tools: DH GBC CGL HH. Wrote the paper: NM CHH ML.