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The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.

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Title: The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories.
Authors: Puthawala D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Reardon B; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Cancer Program, Broad Institute of MIT & Harvard, Cambridge, MA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Kuzma K; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Stevenson JS; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Goar WA; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH., Dolin RH; Elimu Informatics, El Cerrito, CA., Freimuth RR; Mayo Clinic, Rochester, MN., Procknow C; Epic Systems,Verona, WI., Pitel B; Mayo Clinic, Rochester, MN., Kundu P; Velsera, Pune, India., Rampersad A; OakBioinformatics LLC, Fairfax, VA., Van Allen E; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Cancer Program, Broad Institute of MIT & Harvard, Cambridge, MA.; Division of Medical Sciences, Harvard University, Boston, MA., Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Departments of Pediatrics and Biomedical Informatics, Ohio State University College of Medicine, Columbus, OH.
Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Apr 30. Date of Electronic Publication: 2026 Apr 30.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Puthawala+D%22">Puthawala D</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Reardon+B%22">Reardon B</searchLink>; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Cancer Program, Broad Institute of MIT & Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Babb+L%22">Babb L</searchLink>; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Kuzma+K%22">Kuzma K</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Stevenson+JS%22">Stevenson JS</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Goar+WA%22">Goar WA</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.<br /><searchLink fieldCode="AU" term="%22Dolin+RH%22">Dolin RH</searchLink>; Elimu Informatics, El Cerrito, CA.<br /><searchLink fieldCode="AU" term="%22Freimuth+RR%22">Freimuth RR</searchLink>; Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Procknow+C%22">Procknow C</searchLink>; Epic Systems,Verona, WI.<br /><searchLink fieldCode="AU" term="%22Pitel+B%22">Pitel B</searchLink>; Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Kundu+P%22">Kundu P</searchLink>; Velsera, Pune, India.<br /><searchLink fieldCode="AU" term="%22Rampersad+A%22">Rampersad A</searchLink>; OakBioinformatics LLC, Fairfax, VA.<br /><searchLink fieldCode="AU" term="%22Van+Allen+E%22">Van Allen E</searchLink>; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Cancer Program, Broad Institute of MIT & Harvard, Cambridge, MA.; Division of Medical Sciences, Harvard University, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Wagner+AH%22">Wagner AH</searchLink>; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Departments of Pediatrics and Biomedical Informatics, Ohio State University College of Medicine, Columbus, OH.
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