Development and application of a computable genotype model in the GA4GH Variation Representation Specification

As the diversity of genomic variation data increases with our growing understanding of the role of variation in health and disease, it is critical to develop standards for precise inter-system exchange of these data for research and clinical applications. The Global Alliance for Genomics and Health...

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Detalles Bibliográficos
Autores principales: Goar, Wesley, Babb, Lawrence, Chamala, Srikar, Cline, Melissa, Freimuth, Robert R., Hart, Reece K., Kuzma, Kori, Lee, Jennifer, Nelson, Tristan, Prlić, Andreas, Riehle, Kevin, Smith, Anastasia, Stahl, Kathryn, Yates, Andrew D., Rehm, Heidi L., Wagner, Alex H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782714/
https://www.ncbi.nlm.nih.gov/pubmed/36540993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782714/
https://www.ncbi.nlm.nih.gov/pubmed/36540993

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