Advances in AI and machine learning for predictive medicine

IF 2.6 3区 生物学 Q2 GENETICS & HEREDITY Journal of Human Genetics Pub Date : 2024-02-29 DOI:10.1038/s10038-024-01231-y
Alok Sharma, Artem Lysenko, Shangru Jia, Keith A. Boroevich, Tatsuhiko Tsunoda
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Abstract

The field of omics, driven by advances in high-throughput sequencing, faces a data explosion. This abundance of data offers unprecedented opportunities for predictive modeling in precision medicine, but also presents formidable challenges in data analysis and interpretation. Traditional machine learning (ML) techniques have been partly successful in generating predictive models for omics analysis but exhibit limitations in handling potential relationships within the data for more accurate prediction. This review explores a revolutionary shift in predictive modeling through the application of deep learning (DL), specifically convolutional neural networks (CNNs). Using transformation methods such as DeepInsight, omics data with independent variables in tabular (table-like, including vector) form can be turned into image-like representations, enabling CNNs to capture latent features effectively. This approach not only enhances predictive power but also leverages transfer learning, reducing computational time, and improving performance. However, integrating CNNs in predictive omics data analysis is not without challenges, including issues related to model interpretability, data heterogeneity, and data size. Addressing these challenges requires a multidisciplinary approach, involving collaborations between ML experts, bioinformatics researchers, biologists, and medical doctors. This review illuminates these complexities and charts a course for future research to unlock the full predictive potential of CNNs in omics data analysis and related fields.

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人工智能和机器学习在预测医学方面的进展。
在高通量测序技术进步的推动下,omics 领域面临着数据爆炸。丰富的数据为精准医学的预测建模提供了前所未有的机遇,但同时也给数据分析和解读带来了严峻的挑战。传统的机器学习(ML)技术在为 omics 分析生成预测模型方面取得了部分成功,但在处理数据中的潜在关系以实现更准确的预测方面却表现出局限性。本综述通过应用深度学习(DL),特别是卷积神经网络(CNN),探讨预测建模的革命性转变。利用 DeepInsight 等转换方法,可以将以表格(类似表格,包括向量)形式存在的自变量 omics 数据转换为类似图像的表示形式,从而使 CNN 能够有效捕捉潜在特征。这种方法不仅能增强预测能力,还能利用迁移学习,减少计算时间,提高性能。然而,将 CNN 集成到预测性海洋学数据分析中并非没有挑战,包括与模型可解释性、数据异质性和数据大小相关的问题。应对这些挑战需要多学科方法,涉及 ML 专家、生物信息学研究人员、生物学家和医生之间的合作。这篇综述阐明了这些复杂性,并为未来研究指明了方向,以充分释放 CNN 在omics 数据分析及相关领域的预测潜力。
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来源期刊
Journal of Human Genetics
Journal of Human Genetics 生物-遗传学
CiteScore
7.20
自引率
0.00%
发文量
101
审稿时长
4-8 weeks
期刊介绍: The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy. Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.
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