AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.
Dongxue MaoChaozhong LiuLinhua WangRami Ai-OuranCole DeisserothSasidhar PasupuletiSeon Young KimLucian LiJill Anne RosenfeldLinyan MengLindsay C BurrageMichael F WanglerShinya Yamamotonull nullMichael SantanaVictor PerezPriyank ShuklaChristine M EngBrendan H LeeBo YuanFan XiaHugo J BellenPengfei LiuZhandong LiuPublished in: NEJM AI (2024)
AIM achieved superior accuracy compared with existing methods for genetic diagnosis. We anticipate that this tool may aid in primary diagnosis, reanalysis of unsolved cases, and the discovery of novel disease genes. (Funded by the NIH Common Fund and others.).