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...

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Detalles Bibliográficos
Autores principales: Abe, Shuya, Tago, Shinichiro, Yokoyama, Kazuaki, Ogawa, Miho, Takei, Tomomi, Imoto, Seiya, Fuji, Masaru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
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

Internet

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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