Article
A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions.
BMC bioinformatics - 14 Mar 2025
Gnanaolivu Rohan, Oliver Gavin, Jenkinson Garrett, Blake Emily, Chen Wenan, Chia Nicholas, Klee Eric W, Wang Chen
Abstract excerpt
BACKGROUND: Diagnosing Mendelian and rare genetic conditions requires identifying phenotype-associated genetic findings and prioritizing likely disease-causing genes. This task is labor-intensive for molecular and clinical geneticists, who must review extensive literature and databases to link patient phenotypes with causal genotypes. The challenge is further complicated by the large number of genetic variants...
Read the complete abstract on PubMedTopics
- Humans
- Rare Diseases
- Genetic Diseases, Inborn
- Phenotype
- Databases, Genetic
- Computational Biology