Journal Article

The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

Bertelli, Matteo, Henehan, Gary, Vicente, Oscar, Maffia, Michele, Greiner-Tollersrud, Ole K., Sag, Sebnem Ozemri, Mechler, Adam, Arngrimsson, Reynir, Ergoren, M. Cerkez, Dundar, Munis, Bingol, Nurdeniz Nalbant, Yildirim, Duygu T., Marks, Robert, Karanfilska, Dijana Plaseska, Ozturk, Celal, Belo, Isabel, Matulis, Daumantas, Martin, Donald, Cruz, Karla Santa, Nei, Lembit, Akalin, Hilal, Sahin, Izem Olcay, Fournier, Isabelle, Bown, James, Sun, Qun, Lal, Ratnesh, Temel, Sehime G., Tapaloaga, Dana, Yildirim, A. Baki, Danalev, Dancho, Dundar, Mehmet Sait, Salzet, Michel, Yakubi, Mustafa, Beccari, Tommaso, Janecke, Andres, Sánchez-Alcázar, José A., Tan, Busra, Gokce, Nuriye, Ko, Kisung, Prakash, Satya, Pojskic, Lejla, Nalbantoglu, Ozkan Ufuk, Ercan, Mehmet, Radecka, Iza, Ozcelik, Firat, Kellermayer, Miklos

2024

Overview

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.

• Publisher: Springer Berlin Heidelberg,Springer Nature B.V,Springer Verlag
• Subject: Animal Genetics and Genomics / Artificial Intelligence / Biochemistry / Bioinformatics / Biomedical and Life Sciences / Cell Biology / Clinical decision making / fabrics / Genetic disorders / Genetics / Genetics, Medical - methods / Genetics, Medical - trends / genomics / Genomics - methods / Hereditary diseases / Humans / Life Sciences / Machine learning / Medical diagnosis / medicine / Microbial Genetics and Genomics / Molecular Medicine - methods / patient care / Patients / Phenotypes / Plant Genetics and Genomics / Precision medicine / Precision Medicine - methods / Review / Zoonoses