NHGRI aims to setup a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of developing Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease. The primary goal is to identify both genomic and non-genomic factors influencing disease development in individuals carrying pathogenic genetic variants. The ML/AI tools will leverage existing multimodal genomic and non-genomic data and will be cross validated in genomic translational research settings to ensure the accuracy and generalizability of the tools for translational purposes. In addition, the Consortium will explore the ethical, legal, and social implications (ELSI) of integrating ML/AI tools into genomic medicine through the establishment of an ELSI Framework for their development, and through implementation of ELSI research projects.
