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Open Access
Peer-reviewed
Research Article
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
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Frederick E. Dewey,
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America
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Megan E. Grove,
Current address: Stanford Health Care, Stanford, California, United States of America. The information presented represents the author’s own views and does not necessarily represent the views of Stanford Hospital and Clinics, Lucile Packard Children’s Hospital and/or Stanford University or its affiliates.
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America
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James R. Priest,
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Pediatric Cardiology, Stanford University, Stanford, California, United States of America
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Daryl Waggott,
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America
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Prag Batra,
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America
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Clint L. Miller,
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America
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Matthew Wheeler,
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America
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Amin Zia,
Affiliations Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America, Department of Genetics, Stanford University, Stanford, California, United States of America
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Cuiping Pan,
Affiliations Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America, Department of Genetics, Stanford University, Stanford, California, United States of America
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Konrad J. Karzcewski,
Affiliations Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America, Department of Genetics, Stanford University, Stanford, California, United States of America, Biomedical Informatics Training Program, Stanford University, Stanford, California, United States of America
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Christina Miyake,
Affiliation Division of Pediatric Cardiology, Stanford University, Stanford, California, United States of America
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Michelle Whirl-Carrillo,
Affiliation Department of Genetics, Stanford University, Stanford, California, United States of America
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Teri E. Klein,
Affiliation Department of Genetics, Stanford University, Stanford, California, United States of America
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Somalee Datta,
Affiliation Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America
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Russ B. Altman,
Affiliation Department of Genetics, Stanford University, Stanford, California, United States of America
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Michael Snyder,
Affiliations Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California, United States of America, Department of Genetics, Stanford University, Stanford, California, United States of America
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Thomas Quertermous,
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America
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Euan A. Ashley
* E-mail: euan@stanford.edu
Affiliations Stanford Center for Inherited Cardiovascular Disease, Stanford University, Stanford, California, United States of America, Stanford Cardiovascular Institute, Stanford University, Stanford, California, United States of America, Division of Cardiovascular Medicine, Stanford University, Stanford, California, United States of America, Department of Genetics, Stanford University, Stanford, California, United States of America
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Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
- Frederick E. Dewey,
- Megan E. Grove,
- James R. Priest,
- Daryl Waggott,
- Prag Batra,
- Clint L. Miller,
- Matthew Wheeler,
- Amin Zia,
- Cuiping Pan,
- Konrad J. Karzcewski
- Published: October 8, 2015
- https://doi.org/10.1371/journal.pgen.1005496