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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9782714/ https://www.ncbi.nlm.nih.gov/pubmed/36540993 |
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