A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

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作者： Brett,Trost ^[1] ; Susan,Walker ^[1] ; Zhuozhi,Wang ^[1] ; Bhooma,Thiruvahindrapuram ^[1] ; Jeffrey R,MacDonald ^[1] ; Wilson W L,Sung ^[1] ; Sergio L,Pereira ^[1] ; Joe,Whitney ^[1] ; Ada J S,Chan ^[2] ; Giovanna,Pellecchia ^[1] ; Miriam S,Reuter ^[1] ; Si,Lok ^[1] ; Ryan K C,Yuen ^[1] ; Christian R,Marshall ^[3] ; Daniele,Merico ^[4] ; Stephen W,Scherer ^[5]

作者单位： The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. ^[1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. ^[2] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. ^[3] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Deep Genomics Inc., Toronto, ON M5G 1L7, Canada. ^[4] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada. Electronic address: stephen.scherer@sickkids.ca. ^[5]

关键词 CNV SV WGS copy-number variation read depth structural variation variation detection whole-genome sequencing