The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Maximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an extensible framework for the computable representation of variati...

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Detalles Bibliográficos
Autores principales: Wagner, Alex H., Babb, Lawrence, Alterovitz, Gil, Baudis, Michael, Brush, Matthew, Cameron, Daniel L., Cline, Melissa, Griffith, Malachi, Griffith, Obi L., Hunt, Sarah E., Kreda, David, Lee, Jennifer M., Li, Stephanie, Lopez, Javier, Moyer, Eric, Nelson, Tristan, Patel, Ronak Y., Riehle, Kevin, Robinson, Peter N., Rynearson, Shawn, Schuilenburg, Helen, Tsukanov, Kirill, Walsh, Brian, Konopko, Melissa, Rehm, Heidi L., Yates, Andrew D., Freimuth, Robert R., Hart, Reece K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Technology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929418/
https://www.ncbi.nlm.nih.gov/pubmed/35311178
http://dx.doi.org/10.1016/j.xgen.2021.100027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929418/
https://www.ncbi.nlm.nih.gov/pubmed/35311178
http://dx.doi.org/10.1016/j.xgen.2021.100027

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