Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks

• Autors principals: Aditya Rao (Autor), Saipradeep VG (Autor), Thomas Joseph (Autor), Sujatha Kotte (Autor), Naveen Sivadasan (Autor), Rajgopal Srinivasan (Autor)
• Format: Llibre
• Publicat: BMC, 2018-07-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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 potenti...