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Open Access
Peer-reviewed
Research Article
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
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Pooja Biswas,
Roles Data curation, Formal analysis, Investigation, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing
Affiliations Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America, School of Biotechnology, REVA University, Bengaluru, Karnataka, India
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Adda L. Villanueva,
Roles Data curation, Investigation, Project administration, Resources, Writing – original draft
Affiliations Retina and Genomics Institute, Yucatán, México, Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, Canada
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Angel Soto-Hermida,
Roles Data curation, Formal analysis, Validation
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Jacque L. Duncan,
Roles Formal analysis, Funding acquisition, Investigation, Methodology, Validation, Writing – review & editing
Affiliation Ophthalmology, University of California San Francisco, San Francisco, California, United States of America
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Hiroko Matsui,
Roles Data curation, Formal analysis, Methodology, Software, Visualization, Writing – original draft
Affiliation Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, United States of America
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Shyamanga Borooah,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Berzhan Kurmanov,
Roles Formal analysis, Visualization
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Gabriele Richard,
Roles Data curation, Formal analysis, Validation
Affiliation GeneDx, Gaithersburg, Maryland, United States of America
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Shahid Y. Khan,
Roles Data curation, Formal analysis, Writing – original draft
Affiliation The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Kari Branham,
Roles Data curation, Formal analysis, Investigation, Resources, Validation, Visualization, Writing – original draft
Affiliation Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America
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Bonnie Huang,
Roles Formal analysis
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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John Suk,
Roles Data curation, Project administration
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Benjamin Bakall,
Roles Formal analysis, Investigation, Resources, Visualization, Writing – original draft
Affiliation Ophthalmology, University of Arizona College of Medicine Phoenix, Phoenix, Arizona, United States of America
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Jeffrey L. Goldberg,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Byers Eye Institute, Stanford, Palo Alto, California, United States of America
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Luis Gabriel,
Roles Data curation, Formal analysis, Investigation, Resources, Writing – original draft
Affiliation Genetics and Ophthalmology, Genelabor, Goiânia, Brazil
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Naheed W. Khan,
Roles Data curation, Formal analysis, Writing – original draft
Affiliation Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America
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Pongali B. Raghavendra,
Roles Data curation, Formal analysis
Affiliations School of Biotechnology, REVA University, Bengaluru, Karnataka, India, School of Regenerative Medicine, Manipal University, Bengaluru, Karnataka, India
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Jason Zhou,
Roles Formal analysis
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Sindhu Devalaraja,
Roles Formal analysis
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Andrew Huynh,
Roles Formal analysis
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Akhila Alapati,
Roles Formal analysis, Writing – original draft
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Qais Zawaydeh,
Roles Data curation
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Richard G. Weleber,
Roles Formal analysis, Investigation, Resources, Supervision, Writing – review & editing
Affiliation Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States of America
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John R. Heckenlively,
Roles Formal analysis, Investigation, Resources, Supervision, Visualization, Writing – review & editing
Affiliation Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America
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J. Fielding Hejtmancik,
Roles Data curation, Formal analysis, Investigation, Resources, Supervision, Writing – review & editing
Affiliation Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America
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Sheikh Riazuddin,
Roles Data curation, Formal analysis, Investigation, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing
Affiliations National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan
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Paul A. Sieving,
Roles Formal analysis, Investigation, Resources, Supervision, Validation, Writing – review & editing
Affiliations National Eye Institute, Bethesda, Maryland, United States of America, Ophthalmology & Vision Science, UC Davis Medical Center, California, United States of America
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S. Amer Riazuddin ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Project administration, Resources, Supervision, Validation, Visualization, Writing – review & editing
* E-mail: rayyagari@ucsd.edu (RA); kafrazer@health.ucsd.edu (KAF); riazuddin@jhmi.edu (SAR)
Affiliation The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America
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Kelly A. Frazer ,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Writing – review & editing
* E-mail: rayyagari@ucsd.edu (RA); kafrazer@health.ucsd.edu (KAF); riazuddin@jhmi.edu (SAR)
Affiliations Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, United States of America, Department of Pediatrics, Rady Children’s Hospital, Division of Genome Information Sciences, San Diego, California, United States of America
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Radha Ayyagari
Roles Conceptualization, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Writing – review & editing
* E-mail: rayyagari@ucsd.edu (RA); kafrazer@health.ucsd.edu (KAF); riazuddin@jhmi.edu (SAR)
Affiliation Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
- Pooja Biswas,
- Adda L. Villanueva,
- Angel Soto-Hermida,
- Jacque L. Duncan,
- Hiroko Matsui,
- Shyamanga Borooah,
- Berzhan Kurmanov,
- Gabriele Richard,
- Shahid Y. Khan,
- Kari Branham
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- Published: October 18, 2021
- https://doi.org/10.1371/journal.pgen.1009848