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Artificial intelligence & machine learning approaches using gene expression and variant data for personalized medicine
May 21, 2022
Precision medicine uses genetic, environmental, and lifestyle factors to more accurately diagnose and treat disease in specific groups of patients, and it is considered one of the most promising medical efforts our time. The use of genetics is arguably the most data-rich and complex components of precision medicine. The grand challenge today is the successful assimilation of genetics into precision medicine that translates across different ancestries, diverse diseases, and other distinct populations, which will require clever use of artificial intelligence (AI) and machine-learning (ML) methods. Our goal here was to review and compare scientific objectives, methodologies, datasets, data sources, ethics, and gaps of AI/ML approaches used in genomics and precision medicine. We selected high-quality literature published within the last five years that were indexed and available through PubMed Central. Our scope was narrowed to articles that reported application of AI/ML algorithms for statistical and predictive analysis using whole genome and/or whole exome sequencing (WGS & WES) for gene variants, and RNA-seq and microarrays for gene expression. We did not limit our search to specific diseases or data sources. Based on the scope of our review and comparative analysis criteria, we identified 32 different AI/ML approaches applied in variable genomics studies, and report widely adapted AI/ML algorithms for predictive diagnostics across several diseases.
Publication:
– Vadapalli, S., Abdelhalim, H., Zeeshan, S., Ahmed, Z. (2022). Artificial intelligence & machine learning approaches using gene expression and variant data for personalized medicine. Briefings in Bioinformatics. [Online ahead of print]. PMID: 35595537. (Oxford)