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Open Access
Peer-reviewed
Research Article
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
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Gavin R. Oliver,
Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Software, Supervision, Visualization, Writing – original draft, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Xiaojia Tang,
Roles Data curation, Formal analysis, Investigation, Methodology, Software, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Laura E. Schultz-Rogers,
Roles Investigation, Validation, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Noemi Vidal-Folch,
Roles Investigation, Validation, Writing – review & editing
Affiliation Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America
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W. Garrett Jenkinson,
Roles Formal analysis, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Tanya L. Schwab,
Roles Validation, Writing – review & editing
Affiliation Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America
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Krutika Gaonkar,
Roles Formal analysis, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Margot A. Cousin,
Roles Investigation, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Asha Nair,
Roles Formal analysis, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Shubham Basu,
Roles Formal analysis, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Pritha Chanana,
Roles Formal analysis, Writing – review & editing
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America
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Devin Oglesbee,
Roles Investigation, Validation, Writing – review & editing
Affiliations Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America, Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, United States of America
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Eric W. Klee
Roles Funding acquisition, Investigation, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: klee.eric@mayo.edu
Affiliations Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America, Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, United States of America
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease
- Gavin R. Oliver,
- Xiaojia Tang,
- Laura E. Schultz-Rogers,
- Noemi Vidal-Folch,
- W. Garrett Jenkinson,
- Tanya L. Schwab,
- Krutika Gaonkar,
- Margot A. Cousin,
- Asha Nair,
- Shubham Basu
- Published: October 2, 2019
- https://doi.org/10.1371/journal.pone.0223337