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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...

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Detalles Bibliográficos
Autores principales: Rao, Aditya, VG, Saipradeep, Joseph, Thomas, Kotte, Sujatha, Sivadasan, Naveen, Srinivasan, Rajgopal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
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