Welcome to AI-MARRVEL documentation!#
AI-MARRVEL (AIM) is an AI system for rare genetic disease diagnosis.
It takes as input the patient VCF file and the phenotype (formatted in HPO) to predict the causal variant(s). In making the prediction, it takes variant annotation from MARRVEL database and more, and generates prediction score + confidence score as output.
Web Interface#
You can use AI-MARRVEL from our website or follow the documentation to run locally.
Prerequisites#
Unix-like operating system
Docker installed
At least 480G space to download the preprocessed database
16G free memeory recommended for whole-exome sequencing data, greater memory is required for whole-genome sequencing data.
Citation#
Mao, D., Liu, C., Wang, L., AI-Ouran, R., Deisseroth, C., Pasupuleti, S., Kim, S. Y., Li, L., Rosenfeld, J. A., Meng, L., B urrage, L. C., Wangler, M. F., Yamamoto, S., Santana, M., Perez, V., Shukla, P., Eng, C. M., Lee, B., Yuan, B., … Liu, Z. (2024). AI-MARRVEL—A knowledge-driven ai system for diagnosing mendelian disorders. NEJM AI, 1(5). DOI: 10.1056/AIoa2300009
License#
AI-MARRVEL is licensed under GPL-3.0.
© Copyright 2024 by Zhandong Liu’s lab at Baylor College of Medicine.