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SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.

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Title: SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Authors: Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Somerville C; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Manshaei R; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; CGEn, The Hospital for Sick Children, Toronto, ON, Canada., Kalbfleisch K; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Stanley K; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Okello JBA; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; MIT Sloan School of Management, Massachusetts Institute of Technology, Cambridge, MA, USA., Hosseini SM; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Liston E; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Curtis M; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Chan AJS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, ON, Canada., Kim RH; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Department of Medicine, University of Toronto, Toronto, ON, Canada. raymond.kim@sickkids.ca., Jobling RK; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.
Source: Human genetics [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 201-216. Date of Electronic Publication: 2022 Nov 14.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Ding+Q%22">Ding Q</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Somerville+C%22">Somerville C</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Manshaei+R%22">Manshaei R</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Trost+B%22">Trost B</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Reuter+MS%22">Reuter MS</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; CGEn, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kalbfleisch+K%22">Kalbfleisch K</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Stanley+K%22">Stanley K</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Okello+JBA%22">Okello JBA</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; MIT Sloan School of Management, Massachusetts Institute of Technology, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hosseini+SM%22">Hosseini SM</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Liston+E%22">Liston E</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Curtis+M%22">Curtis M</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Zarrei+M%22">Zarrei M</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Higginbotham+EJ%22">Higginbotham EJ</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chan+AJS%22">Chan AJS</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Engchuan+W%22">Engchuan W</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Thiruvahindrapuram+B%22">Thiruvahindrapuram B</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics and the McLaughlin Centre, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kim+RH%22">Kim RH</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network, Toronto, ON, Canada. raymond.kim@sickkids.ca.; Department of Medicine, University of Toronto, Toronto, ON, Canada. raymond.kim@sickkids.ca.<br /><searchLink fieldCode="AU" term="%22Jobling+RK%22">Jobling RK</searchLink>; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2023 Feb; Vol. 142 (2), pp. 201-216. <i>Date of Electronic Publication: </i>2022 Nov 14.
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