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Open Access
Peer-reviewed
Research Article
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants
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Eli Fritz McDonald,
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliations Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America, Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America
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Kathryn E. Oliver,
Roles Funding acquisition, Supervision, Writing – review & editing
Affiliations Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America, Center for Cystic Fibrosis and Airways Diseases, Children’s Healthcare of Atlanta and Emory University, Atlanta, Georgia, United States of America
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Jonathan P. Schlebach,
Roles Funding acquisition, Supervision, Writing – review & editing
Affiliation Department of Chemistry, Purdue University, West Lafyette, Indiana, United States of America
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Jens Meiler ,
Roles Funding acquisition, Supervision, Writing – review & editing
* E-mail: jens@meilerlab.org (JM); lars.plate@vanderbilt.edu (LP)
Affiliations Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America, Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America, Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, United States of America, Institute for Drug Discovery, Leipzig University, Leipzig, Germany
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Lars Plate
Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – review & editing
* E-mail: jens@meilerlab.org (JM); lars.plate@vanderbilt.edu (LP)
Affiliations Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America, Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, United States of America, Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America
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Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants
- Eli Fritz McDonald,
- Kathryn E. Oliver,
- Jonathan P. Schlebach,
- Jens Meiler,
- Lars Plate
- Published: January 25, 2024
- https://doi.org/10.1371/journal.pone.0297560