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Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks
BACKGROUND: One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype information usually identifies a few hundred potential varia...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035401/ https://www.ncbi.nlm.nih.gov/pubmed/29980210 http://dx.doi.org/10.1186/s12920-018-0372-8 |