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Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs
SIMPLE SUMMARY: To treat diseases caused by genetic mutations, such as mutations in genes and cancer cells, genomic medicine is being promoted to identify disease-causing variants in individual patients using comprehensive genetic analysis (next-generation sequencing, or NGS) for diagnosis and treat...
Autores principales: | Abe, Shuya, Tago, Shinichiro, Yokoyama, Kazuaki, Ogawa, Miho, Takei, Tomomi, Imoto, Seiya, Fuji, Masaru |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953952/ https://www.ncbi.nlm.nih.gov/pubmed/36831459 http://dx.doi.org/10.3390/cancers15041118 |
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