Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

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第一作者： Joseph T,Glessner

第一单位： The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

作者： Joseph T,Glessner ^[1] ; Alexander G,Bick ^[2] ; Kaoru,Ito ^[3] ; Jason,Homsy ^[3] ; Laura,Rodriguez-Murillo ^[3] ; Menachem,Fromer ^[4] ; Erica,Mazaika ^[5] ; Badri,Vardarajan ^[5] ; Michael,Italia ^[6] ; Jeremy,Leipzig ^[7] ; Steven R,DePalma ^[3] ; Ryan,Golhar ^[8] ; Stephan J,Sanders ^[9] ; Boris,Yamrom ^[9] ; Michael,Ronemus ^[3] ; Ivan,Iossifov ^[1] ; A Jeremy,Willsey ^[10] ; Matthew W,State ^[11] ; Jonathan R,Kaltman ^[12] ; Peter S,White ^[12] ; Yufeng,Shen ^[12] ; Dorothy,Warburton ^[10] ; Martina,Brueckner ^[11] ; Christine,Seidman ^[10] ; Elizabeth,Goldmuntz ^[11] ; Bruce D,Gelb ^[13] ; Richard,Lifton ^[9] ; Jonathan,Seidman ^[8] ; Hakon,Hakonarson ^[14] ; Wendy K,Chung ^[15]

作者单位： The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. ^[1] Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. ^[2] Genetics, Harvard Medical School, Boston, MA 02115, USA. ^[3] Mindich Child Health and Development Institute, Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. ^[4] Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. ^[5] Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. ^[6] Psychiatric Genomics in the Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. ^[7] Systems Biology, Columbia University Medical Center, New York, NY 10032, USA. ^[8] Center for Biomedical Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. ^[9] Genetics, Yale University, New Haven, CT 06520, USA. ^[10] Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA. ^[11] Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA. ^[12] Cardiovascular Sciences, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD 20892, USA. ^[13] Genetics and Development (in Medicine), Columbia University Medical Center, New York, NY 10032, USA. ^[14] Pediatrics, Yale University, New Haven, CT 06520, USA. ^[15] Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. ^[16] Medicine, Yale University, New Haven, CT 06520, USA. ^[17] Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA. ^[18]

关键词 DNA copy number variations genomics microarray analysis polymorphism, single nucleotide