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Annual Review of Genomics and Human Genetics: DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the...
| Autores principales: | , , , , , |
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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/PMC7615097/ https://www.ncbi.nlm.nih.gov/pubmed/37285546 http://dx.doi.org/10.1146/annurev-genom-102822-100509 |