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. |
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| 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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