Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
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 an...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2020-01-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-13624-1 |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations Nature Communications |
| author_facet |
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 |
| author_sort |
Yun Rose Li |
| title |
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| title_short |
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| title_full |
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| title_fullStr |
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| title_full_unstemmed |
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations |
| title_sort |
rare copy number variants in over 100,000 european ancestry subjects reveal multiple disease associations |
| publisher |
Nature Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2020-01-01 |
| description |
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. |
| url |
https://doi.org/10.1038/s41467-019-13624-1 |
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doaj-bff05ccd6ca145f18966c6e073fcf8bb2021-01-31T13:09:00ZengNature Publishing GroupNature Communications2041-17232020-01-011111910.1038/s41467-019-13624-1Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associationsYun Rose Li0Joseph T. Glessner1Bradley P. Coe2Jin Li3Maede Mohebnasab4Xiao Chang5John Connolly6Charlly Kao7Zhi Wei8Jonathan Bradfield9Cecilia Kim10Cuiping Hou11Munir Khan12Frank Mentch13Haijun Qiu14Marina Bakay15Christopher Cardinale16Maria Lemma17Debra Abrams18Andrew Bridglall-Jhingoor19Meckenzie Behr20Shanell Harrison21George Otieno22Alexandria Thomas23Fengxiang Wang24Rosetta Chiavacci25Lawrence Wu26Dexter Hadley27Elizabeth Goldmuntz28Josephine Elia29John Maris30Robert Grundmeier31Marcella Devoto32Brendan Keating33Michael March34Renata Pellagrino35Struan F. A. Grant36Patrick M. A. Sleiman37Mingyao Li38Evan E. Eichler39Hakon Hakonarson40The Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaDepartment of Genome Sciences, University of Washington School of MedicineThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaDepartment of Computer Science, New Jersey Institute of TechnologyThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaHelen Diller Comprehensive Family Cancer Center and Department of Radiation Oncology, University of California San FranciscoDepartment of Pediatrics, University of Pennsylvania Perelman School of MedicineDepartment of Pediatrics, University of Pennsylvania Perelman School of MedicineDepartment of Pediatrics, University of Pennsylvania Perelman School of MedicineCenter for Biomedical Informatics, The Children’s Hospital of PhiladelphiaDepartment of Pediatrics, University of Pennsylvania Perelman School of MedicineThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaDepartment of Biostatistics and Epidemiology, University of Pennsylvania School of MedicineDepartment of Genome Sciences, University of Washington School of MedicineThe Center for Applied Genomics, The Children’s Hospital of PhiladelphiaAssociations 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.https://doi.org/10.1038/s41467-019-13624-1 |