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Article

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

BMC medical genomics - 6 Jul 2018

Rao Aditya, Vg Saipradeep, Joseph Thomas, Kotte Sujatha, Sivadasan Naveen, Srinivasan Rajgopal

Abstract excerpt

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 variants. Narrowing it down further to find the causal disease genes and relating them to the observed clinical...

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PMID: 29980210
DOI: 10.1186/s12920-018-0372-8
PMCID: PMC6035401

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