Bridge2AI Recommendations for AI-Ready Genomic Data

TL;DR

This paper provides guidelines for preparing genomic datasets to be AI-ready, facilitating their effective use in AI and machine learning applications to advance medicine and human health.

Contribution

It introduces a set of recommendations for collecting, storing, and using genomics data to ensure AI-readiness, supporting biomedical research and AI model development.

Findings

Recommendations for genomics data collection and storage.

Guidelines for dataset identification and use.

Enhancement of AI applications in medicine.

Abstract

Rapid advancements in technology have led to an increased use of artificial intelligence (AI) technologies in medicine and bioinformatics research. In anticipation of this, the National Institutes of Health (NIH) assembled the Bridge to Artificial Intelligence (Bridge2AI) consortium to coordinate development of AI-ready datasets that can be leveraged by AI models to address grand challenges in human health and disease. The widespread availability of genome sequencing technologies for biomedical research presents a key data type for informing AI models, necessitating that genomics data sets are AI-ready. To this end, the Genomic Information Standards Team (GIST) of the Bridge2AI Standards Working Group has documented a set of recommendations for maintaining AI-ready genomics datasets. In this report, we describe recommendations for the collection, storage, identification, and proper use of genomics datasets to enable them to be considered AI-ready and thus drive new insights in medicine through AI and machine learning applications.