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Phenopacket-tools: Building and validating GA4GH Phenopackets

The Global Alliance for Genomics and Health (GA4GH) is a standards-setting organization that is developing a suite of coordinated standards for genomics. The GA4GH Phenopacket Schema is a standard for sharing disease and phenotype information that characterizes an individual person or biosample. The...

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Detalles Bibliográficos
Autores principales: Danis, Daniel, Jacobsen, Julius O. B., Wagner, Alex H., Groza, Tudor, Beckwith, Martha A., Rekerle, Lauren, Carmody, Leigh C., Reese, Justin, Hegde, Harshad, Ladewig, Markus S., Seitz, Berthold, Munoz-Torres, Monica, Harris, Nomi L., Rambla, Jordi, Baudis, Michael, Mungall, Christopher J., Haendel, Melissa A., Robinson, Peter N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191354/
https://www.ncbi.nlm.nih.gov/pubmed/37196000
http://dx.doi.org/10.1371/journal.pone.0285433