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Open Access
Peer-reviewed
Research Article
A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population
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Catherine Tcheandjieu,
Roles Investigation, Methodology, Supervision, Visualization, Writing – original draft
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Pediatric Cardiology Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America
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Matthew Aguirre,
Roles Data curation, Software
Affiliations Department of Pediatric Cardiology Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, United States of America
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Stefan Gustafsson,
Roles Data curation
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America
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Priyanka Saha,
Roles Data curation
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Pediatric Cardiology Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America
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Praneetha Potiny,
Roles Data curation
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Pediatric Cardiology Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America
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Melissa Haendel,
Roles Data curation, Methodology
Affiliation Department of Medical Informatics and Clinical Epidemiology, School of Medicine, Oregon Health & Science University (OHSU), Oregon, United States of America
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Erik Ingelsson,
Roles Conceptualization
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America, Stanford Diabetes Research Center, Stanford University, Stanford, California, United States of America
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Manuel A. Rivas,
Roles Software
Affiliations Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America
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James R. Priest
Roles Conceptualization, Data curation, Supervision, Writing – original draft
* E-mail: jpriest@stanford.edu
Affiliations Stanford Cardiovascular Institute, Stanford University, Stanford, Stanford, California, United States of America, Department of Pediatric Cardiology Stanford University School of Medicine, Stanford, California, United States of America, Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, United States of America, Chan-Zuckerberg Biohub, San Francisco, California, United States of America
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A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population
- Catherine Tcheandjieu,
- Matthew Aguirre,
- Stefan Gustafsson,
- Priyanka Saha,
- Praneetha Potiny,
- Melissa Haendel,
- Erik Ingelsson,
- Manuel A. Rivas,
- James R. Priest
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- Published: November 23, 2020
- https://doi.org/10.1371/journal.pgen.1008802