与许多其他领域一样，人工智能 (AI) 平台已成为遗传学和分子医学领域的关键工具。患者数据的增长、新疾病和表型的识别、新细胞内途径的发现、更多组学数据的可用性以及持续分析它们的需求导致了新的人工智能平台的开发。人工智能继续融入遗传学领域，有可能解锁新发现并增强患者护理。这项技术为各个领域的突破奠定了基础，包括形态异常、罕见遗传性疾病、癌症、临床微生物组学、人畜共患疾病调查、所有医学学科的组学研究。人工智能在促进对这些领域更深入了解方面的作用预示着个性化医疗的新时代的到来，其中治疗和诊断是根据个人的分子特征量身定制的，提供了更精确的方法来对抗遗传性或后天性疾病。这些人工智能平台的重要性越来越大，因为它们在诊断和治疗过程中协助医疗保健专业人员，标志着向更知情、高效和有效的医疗实践的关键转变。在这篇综述中，我们将探索可用的人工智能工具的范围，并展示它们如何在支持临床决策的基因组研究的各个领域变得至关重要。© 2024。作者获得 Springer-Verlag GmbH 德国的独家许可，部分施普林格自然。

Artificial intelligence (AI) platforms have emerged as pivotal tools in genetics and molecular medicine, as in many other fields. The growth in patient data, identification of new diseases and phenotypes, discovery of new intracellular pathways, availability of greater sets of omics data, and the need to continuously analyse them have led to the development of new AI platforms. AI continues to weave its way into the fabric of genetics with the potential to unlock new discoveries and enhance patient care. This technology is setting the stage for breakthroughs across various domains, including dysmorphology, rare hereditary diseases, cancers, clinical microbiomics, the investigation of zoonotic diseases, omics studies in all medical disciplines. AI's role in facilitating a deeper understanding of these areas heralds a new era of personalised medicine, where treatments and diagnoses are tailored to the individual's molecular features, offering a more precise approach to combating genetic or acquired disorders. The significance of these AI platforms is growing as they assist healthcare professionals in the diagnostic and treatment processes, marking a pivotal shift towards more informed, efficient, and effective medical practice. In this review, we will explore the range of AI tools available and show how they have become vital in various sectors of genomic research supporting clinical decisions.© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.