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Phenogenon: Gene to phenotype associations for rare genetic diseases
As high-throughput sequencing is increasingly applied to the molecular diagnosis of rare Mendelian disorders, a large number of patients with diverse phenotypes have their genetic and phenotypic data pooled together to uncover new gene-phenotype relations. We introduce Phenogenon, a statistical tool...
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| Publicado en: | PLoS One |
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| Autores principales: | , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7144978/ https://ncbi.nlm.nih.gov/pubmed/32271766 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0230587 |
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