PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

ABSTRACT:

Introduction

Phenotype-driven rare disease gene prioritization relies on high quality curated resources containing disease, gene and phenotype annotations. However, the effectiveness of gene prioritization tools is constrained by the incomplete coverage of rare disease, phenotype and gene annotations in such curated resources.

Methods

We extracted rare disease correlation pairs involving diseases, phenotypes and genes from MEDLINE abstracts and used the information propagation algorithm GCAS to build an association network. We built a tool called PRIORI-T for rare disease gene prioritization that uses this network for phenotype-driven rare disease gene prioritization. The quality of disease-gene associations in PRIORI-T was compared with resources such as DisGeNET and Open T

SUBMITTER: Rao A 

PROVIDER: S-EPMC7173875 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature