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Open Access
Peer-reviewed
Research Article
Increasing the diagnostic yield of exome sequencing by copy number variant analysis
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Daniel S. Marchuk,
Roles Conceptualization, Data curation, Formal analysis, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Kristy Crooks,
Roles Data curation, Formal analysis, Investigation, Methodology, Supervision, Writing – original draft, Writing – review & editing
Affiliation Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States of America
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Natasha Strande,
Roles Formal analysis, Investigation, Validation, Visualization, Writing – original draft, Writing – review & editing
Affiliations Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America, Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States of America
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Kathleen Kaiser-Rogers,
Roles Data curation, Investigation, Resources, Supervision, Writing – review & editing
Affiliations Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America, Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States of America, Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC, United Sates of America
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Laura V. Milko,
Roles Data curation, Project administration, Writing – review & editing
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Alicia Brandt,
Roles Data curation, Validation, Writing – review & editing
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Alexandra Arreola,
Roles Formal analysis, Investigation, Writing – review & editing
Current address: Center for Molecular Biology & Pathology, Laboratory Corporation of America, Durham, NC, United States of America
Affiliation Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC, United States of America
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Christian R. Tilley,
Roles Data curation, Validation, Writing – review & editing
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Chris Bizon,
Roles Data curation, Software, Supervision, Writing – review & editing
Affiliation Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC, United States of America
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Neeta L. Vora,
Roles Formal analysis, Funding acquisition, Investigation, Resources, Writing – review & editing
Affiliation Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, NC, United States of America
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Kirk C. Wilhelmsen,
Roles Software, Supervision, Writing – review & editing
Affiliations Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America, Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC, United States of America
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James P. Evans,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Resources, Supervision, Writing – review & editing
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Jonathan S. Berg
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Resources, Supervision, Writing – original draft, Writing – review & editing
* E-mail: jonathan_berg@med.unc.edu
Affiliation Department of Genetics, University of North Carolina, Chapel Hill, NC, United States of America
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Increasing the diagnostic yield of exome sequencing by copy number variant analysis
- Daniel S. Marchuk,
- Kristy Crooks,
- Natasha Strande,
- Kathleen Kaiser-Rogers,
- Laura V. Milko,
- Alicia Brandt,
- Alexandra Arreola,
- Christian R. Tilley,
- Chris Bizon,
- Neeta L. Vora
- Published: December 17, 2018
- https://doi.org/10.1371/journal.pone.0209185