A clinical knowledge graph-based framework to prioritize candidate genes for facilitating diagnosis of Mendelian diseases and rare genetic conditions
基于临床知识图谱的框架,用于优先筛选候选基因,以促进孟德尔遗传病和罕见遗传病的诊断。
期刊:BMC Bioinformatics
影响因子:3.3
doi:10.1186/s12859-025-06096-2
Gnanaolivu, Rohan; Oliver, Gavin; Jenkinson, Garrett; Blake, Emily; Chen, Wenan; Chia, Nicholas; Klee, Eric W; Wang, Chen