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Open Access
Peer-reviewed
Research Article
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
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Timo A. Kumpula,
Roles Data curation, Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Sandra Vorimo,
Roles Formal analysis, Investigation, Validation, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Taneli T. Mattila,
Roles Data curation, Resources, Writing – review & editing
Affiliation Department of Pathology, Oulu University Hospital and University of Oulu, Oulu, Finland
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Luke O’Gorman,
Roles Data curation, Formal analysis, Investigation, Methodology, Software
Affiliation Department of Human Genetics and Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands
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Galuh Astuti,
Roles Data curation, Formal analysis, Investigation, Methodology, Software
Affiliation Department of Human Genetics and Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands
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Anna Tervasmäki,
Roles Investigation, Validation, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Susanna Koivuluoma,
Roles Formal analysis, Investigation, Validation, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Tiina M. Mattila,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Mervi Grip,
Roles Resources
Affiliation Department of Surgery, Oulu University Hospital and University of Oulu, Oulu, Finland
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Robert Winqvist,
Roles Resources, Writing – review & editing
Affiliation Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland
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Outi Kuismin,
Roles Resources
Affiliation Department of Clinical Genetics, Medical Research Center Oulu and PEDEGO Research Unit, Oulu University Hospital and University of Oulu, Oulu, Finland
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Jukka Moilanen,
Roles Resources
Affiliation Department of Clinical Genetics, Medical Research Center Oulu and PEDEGO Research Unit, Oulu University Hospital and University of Oulu, Oulu, Finland
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Alexander Hoischen,
Roles Data curation, Formal analysis, Investigation
Affiliations Department of Human Genetics and Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands, Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands
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Christian Gilissen,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Human Genetics and Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands
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Tuomo Mantere ,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing
¶‡ These authors are joint senior authors on this work.
Affiliations Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland, Department of Human Genetics and Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands
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Katri Pylkäs
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing
* E-mail: katri.pylkas@oulu.fi
¶‡ These authors are joint senior authors on this work.
Affiliations Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland, Northern Finland Laboratory Centre Nordlab, Oulu, Finland
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Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
- Timo A. Kumpula,
- Sandra Vorimo,
- Taneli T. Mattila,
- Luke O’Gorman,
- Galuh Astuti,
- Anna Tervasmäki,
- Susanna Koivuluoma,
- Tiina M. Mattila,
- Mervi Grip,
- Robert Winqvist
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- Published: August 14, 2023
- https://doi.org/10.1371/journal.pgen.1010889