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. |
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| 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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