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

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 potential variants. Narrowing it down further to find the causal disease genes and relating them to the observed clinical phenotypes remains a significant challenge, especially for rare diseases.

Methods

We propose a phenotype-driven gene prioritization approach using heterogeneous networks in the context of rare diseases. Towards this, we first built a heterogeneous network consisting of ontological associations as well as curated associations involving genes, diseases, phenotypes and pathways f

SUBMITTER: Rao A 

PROVIDER: S-EPMC6035401 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature