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Open Access
Peer-reviewed
Research Article
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
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Bushra Haque,
Roles Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Validation, Visualization, Writing – original draft
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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David Cheerie,
Roles Formal analysis, Writing – review & editing
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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Amy Pan,
Roles Formal analysis, Writing – review & editing
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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Meredith Curtis,
Roles Formal analysis, Writing – review & editing
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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Thomas Nalpathamkalam,
Roles Writing – review & editing
Affiliation The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
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Jimmy Nguyen,
Roles Formal analysis, Writing – review & editing
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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Celine Salhab,
Roles Formal analysis, Writing – review & editing
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
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Bhooma Thiruvahindrapuram,
Roles Data curation, Writing – review & editing
Affiliation The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
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Jade Zhang,
Roles Formal analysis, Writing – review & editing
Affiliation Human Biology Program, University of Toronto, Toronto, Ontario, Canada
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Madeline Couse,
Roles Formal analysis, Writing – review & editing
Affiliation Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada
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Taila Hartley,
Roles Data curation, Writing – review & editing
Affiliation Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
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Michelle M. Morrow,
Roles Data curation, Writing – review & editing
Affiliation GeneDx, Gaithersburg, Maryland, United States of America
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E. Magda Price,
Roles Data curation, Writing – review & editing
Affiliation Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
⨯ - Susan Walker,
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David Malkin,
Roles Supervision, Writing – review & editing
Affiliation Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada
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Frederick P. Roth,
Roles Supervision, Writing – review & editing
Affiliations Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada, Donnelly Centre for Cellular and Biomolecular Research (CCBR), University of Toronto, Toronto, Ontario, Canada, Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, Ontario, Canada, Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America, Department of Computer Science, University of Toronto, Toronto, Ontario, Canada
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Gregory Costain
Roles Conceptualization, Funding acquisition, Supervision, Writing – original draft
* E-mail: gregory.costain@sickkids.ca
Affiliations Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada, Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants
- Bushra Haque,
- David Cheerie,
- Amy Pan,
- Meredith Curtis,
- Thomas Nalpathamkalam,
- Jimmy Nguyen,
- Celine Salhab,
- Bhooma Thiruvahindrapuram,
- Jade Zhang,
- Madeline Couse
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- Published: January 6, 2025
- https://doi.org/10.1371/journal.pgen.1011540