RDmap: a map for exploring rare diseases.

ABSTRACT:

Background

The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases.

Methods

A distance matrix of rare diseases included in Orphanet was measured by calculating the quantitative distance among phenotypes and pathogenic genes based on Human Phenotype Ontology (HPO) and Gene Ontology (GO), and each disease was mapped into Euclidean space. A rare disease map, enhanced by clustering classes and disease information, was developed based on ECharts.

Results

A rare disease map called RDmap was published a

SUBMITTER: Yang J 

PROVIDER: S-EPMC7905868 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature