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Paper Details

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Nat Commun
40
2020
-, -coding RNAs, 2746, CNV, CNVRs, CNVs, Copy number variants, GWAS loci, OMIM, OMIM genes, autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases, coding exons, copy number variants, homozygous deletion CNV regions, human, human genome
Author NameAffiliation
Joseph T GlessnerThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Joseph T GlessnerUniversity of Pennsylvania Perelman School of Medicine
Jin LiThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Jin LiAffiliated Cancer Hospital and Institute of Guangzhou Medical University
Maedeh MohebnasabThe Center for Applied Genomics, The Children's Hospital of Philadelphia
John J ConnollyThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Zhi WeiNew Jersey Institute of Technology
Jonathan P BradfieldThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Cecilia E KimThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Frank D MentchThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Frank D MentchThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Frederick G OtienoThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Fengxiang WangThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Rosetta M ChiavacciThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Dexter HadleyHelen Diller Comprehensive Family Cancer Center and Department of Radiation Oncology, University of California San Francisco
Elizabeth GoldmuntzUniversity of Pennsylvania Perelman School of Medicine
Elizabeth GoldmuntzThe Children's Hospital of Philadelphia
John M MarisUniversity of Pennsylvania Perelman School of Medicine
John M MarisThe Children's Hospital of Philadelphia
John M MarisUniversity of Pennsylvania Perelman School of Medicine
John M MarisThe Children's Hospital of Philadelphia
Robert W GrundmeierCenter for Biomedical Informatics, The Children's Hospital of Philadelphia
Brendan J KeatingThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Michael E MarchThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Struan F A GrantThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Struan F A GrantUniversity of Pennsylvania Perelman School of Medicine
Struan F A GrantThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Struan F A GrantUniversity of Pennsylvania Perelman School of Medicine
Patrick M A SleimanThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Patrick M A SleimanThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Mingyao LiUniversity of Pennsylvania School of Medicine
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington School of Medicine
Evan E EichlerUniversity of Washington School of Medicine
Evan E EichlerHoward Hughes Medical Institute, University of Washington School of Medicine
Hakon HakonarsonThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonUniversity of Pennsylvania Perelman School of Medicine
Hakon HakonarsonThe Center for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonUniversity of Pennsylvania Perelman School of Medicine
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