02106nas a2200193 4500000000100000000000100001008004100002100002300043700001600066700002000082700002200102700002700124700002000151245011300171856004600284490000700330520156100337022001401898 2024 d1 aHamidreza Ashayeri1 aNavid Sobhi1 aPaweł Pławiak1 aSiamak Pedrammehr1 aRoohallah Alizadehsani1 aAli Jafarizadeh00aTransfer Learning in Cancer Genetics, Mutation Detection, Gene Expression Analysis, and Syndrome Recognition uhttps://www.mdpi.com/2072-6694/16/11/21380 v163 a

Artificial intelligence (AI), encompassing machine learning (ML) and deep learning (DL), has revolutionized medical research, facilitating advancements in drug discovery and cancer diagnosis. ML identifies patterns in data, while DL employs neural networks for intricate processing. Predictive modeling challenges, such as data labeling, are addressed by transfer learning (TL), leveraging pre-existing models for faster training. TL shows potential in genetic research, improving tasks like gene expression analysis, mutation detection, genetic syndrome recognition, and genotype–phenotype association. This review explores the role of TL in overcoming challenges in mutation detection, genetic syndrome detection, gene expression, or phenotype–genotype association. TL has shown effectiveness in various aspects of genetic research. TL enhances the accuracy and efficiency of mutation detection, aiding in the identification of genetic abnormalities. TL can improve the diagnostic accuracy of syndrome-related genetic patterns. Moreover, TL plays a crucial role in gene expression analysis in order to accurately predict gene expression levels and their interactions. Additionally, TL enhances phenotype–genotype association studies by leveraging pre-trained models. In conclusion, TL enhances AI efficiency by improving mutation prediction, gene expression analysis, and genetic syndrome detection. Future studies should focus on increasing domain similarities, expanding databases, and incorporating clinical data for better predictions.

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