Nature Communications (Jan 2020)
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
- Yun Rose Li,
- Joseph T. Glessner,
- Bradley P. Coe,
- Jin Li,
- Maede Mohebnasab,
- Xiao Chang,
- John Connolly,
- Charlly Kao,
- Zhi Wei,
- Jonathan Bradfield,
- Cecilia Kim,
- Cuiping Hou,
- Munir Khan,
- Frank Mentch,
- Haijun Qiu,
- Marina Bakay,
- Christopher Cardinale,
- Maria Lemma,
- Debra Abrams,
- Andrew Bridglall-Jhingoor,
- Meckenzie Behr,
- Shanell Harrison,
- George Otieno,
- Alexandria Thomas,
- Fengxiang Wang,
- Rosetta Chiavacci,
- Lawrence Wu,
- Dexter Hadley,
- Elizabeth Goldmuntz,
- Josephine Elia,
- John Maris,
- Robert Grundmeier,
- Marcella Devoto,
- Brendan Keating,
- Michael March,
- Renata Pellagrino,
- Struan F. A. Grant,
- Patrick M. A. Sleiman,
- Mingyao Li,
- Evan E. Eichler,
- Hakon Hakonarson
Affiliations
- Yun Rose Li
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Joseph T. Glessner
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Bradley P. Coe
- Department of Genome Sciences, University of Washington School of Medicine
- Jin Li
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Maede Mohebnasab
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Xiao Chang
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- John Connolly
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Charlly Kao
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Zhi Wei
- Department of Computer Science, New Jersey Institute of Technology
- Jonathan Bradfield
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Cecilia Kim
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Cuiping Hou
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Munir Khan
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Frank Mentch
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Haijun Qiu
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Marina Bakay
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Christopher Cardinale
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Maria Lemma
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Debra Abrams
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Andrew Bridglall-Jhingoor
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Meckenzie Behr
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Shanell Harrison
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- George Otieno
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Alexandria Thomas
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Fengxiang Wang
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Rosetta Chiavacci
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Lawrence Wu
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Dexter Hadley
- Helen Diller Comprehensive Family Cancer Center and Department of Radiation Oncology, University of California San Francisco
- Elizabeth Goldmuntz
- Department of Pediatrics, University of Pennsylvania Perelman School of Medicine
- Josephine Elia
- Department of Pediatrics, University of Pennsylvania Perelman School of Medicine
- John Maris
- Department of Pediatrics, University of Pennsylvania Perelman School of Medicine
- Robert Grundmeier
- Center for Biomedical Informatics, The Children’s Hospital of Philadelphia
- Marcella Devoto
- Department of Pediatrics, University of Pennsylvania Perelman School of Medicine
- Brendan Keating
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Michael March
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Renata Pellagrino
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Struan F. A. Grant
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Patrick M. A. Sleiman
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- Mingyao Li
- Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine
- Evan E. Eichler
- Department of Genome Sciences, University of Washington School of Medicine
- Hakon Hakonarson
- The Center for Applied Genomics, The Children’s Hospital of Philadelphia
- DOI
- https://doi.org/10.1038/s41467-019-13624-1
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 9
Abstract
Associations of copy number variations (CNVs) with complex traits are challenging to study because of their low frequency. Here, the authors analyse SNP array and array comparative genomic hybridization data of 100,028 individuals and report their associations with immune-related, cardiometabolic and neuropsychiatric diseases as well as cancer.
