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

Nori Matsunami; Dexter Hadley; Charles H. Hensel; G. Bryce Christensen; Cecilia Kim; Edward Frackelton; Kelly Thomas; Renata Pellegrino da Silva; Jeff Stevens; Lisa Baird; Brith Otterud; Karen Ho; Tena Varvil; Tami Leppert; Christophe G. Lambert; Mark Leppert; Hakon Hakonarson

doi:10.1371/journal.pone.0052239

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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 ,

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
⨯
Dexter Hadley ,

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
⨯
Charles H. Hensel ,

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

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America
⨯
G. Bryce Christensen,

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

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

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

Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
⨯
Renata Pellegrino da Silva,

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

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Lisa Baird,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Brith Otterud,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Karen Ho,

Affiliation Lineagen, Inc., Salt Lake City, Utah, United States of America
⨯
Tena Varvil,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Tami Leppert,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
Christophe G. Lambert,

Affiliation Golden Helix, Inc., Bozeman, Montana, United States of America
⨯
Mark Leppert,

Affiliation Department of Human Genetics, University of Utah, Salt Lake City, Utah, United States of America
⨯
[ ... ],
Hakon Hakonarson

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

Nori Matsunami,
Dexter Hadley,
Charles H. Hensel,
G. Bryce Christensen,
Cecilia Kim,
Edward Frackelton,
Kelly Thomas,
Renata Pellegrino da Silva,
Jeff Stevens,
Lisa Baird

Published: January 14, 2013
https://doi.org/10.1371/journal.pone.0052239

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Authors from Lineagen, CHOP, University of Utah, and Golden Helix discuss paper's findings

Posted by jvionas on 31 Jan 2013 at 20:54 GMT

On January 29, 2013, Dr. Hakonarson, Dr. Leppert, Dr. Paul, Dr. Hensel, and Dr. Christensen discussed the methodology, analytic processes, and findings of this paper in a 90 minute webcast. It can be accessed at: http://www.goldenhelix.co...

Competing interests declared: Golden Helix

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Autism spectrum disorder
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Single nucleotide polymorphisms
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Chromosomal duplications
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Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

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

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Authors from Lineagen, CHOP, University of Utah, and Golden Helix discuss paper's findings

Posted by jvionas on 31 Jan 2013 at 20:54 GMT