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LiuzLab / AI_MARRVEL

AI-MARRVEL (AIM) is an AI system for rare genetic disorder diagnosis
GNU General Public License v3.0
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AIM-NDG #16

Closed drmurdock closed 5 months ago

drmurdock commented 5 months ago

Hi, I'm interested in running AI-MARRVEL for novel gene discovery. In the manuscript, you describe running the AIM-NDG model for this purpose. Is there a specific way of running the NDG module that differs from the default instructions? Thanks.

arine commented 5 months ago

Hi,

Thank you for your interest in AI-MARRVEL for novel gene discovery. When you run the AIM pipeline, your input will be processed through all four models: Default mode, Recessive mode, Novel Disease Gene mode, and Novel Disease Gene + Recessive mode. The results will be saved in files named *_default_predictions.csv, *_recessive_predictions.csv, *_nd_predictions.csv, and *_nd_recessive_predictions.csv respectively. Additionally, all results will be concatenated into a single file named *_integrated.csv.

For more detailed information, please refer to our documentation: AI-MARRVEL Output.

Thank you.