Jul 2026· Indian Journal of Pediatrics· Vol 93, pp. 846 - 851· 1 citation· 42 references
Medicine
TL;DR
With continued progress in precision medicine and genomics, these AI genomic tools are likely to be integrated more into medical genetics practice, rather than remaining restricted to specialised or experimental settings.
A clinically oriented, pipeline-based synthesis of contemporary AI applications in genomic medicine, focusing on factors that determine model robustness and clinical utility, and common sources of failure in real-world genomic AI systems.
Alexandra-Maria Blaga, Răzvan-Octavian Mihuț, A. Treteanu et al.· International Journal of Mol...· 0 citations
A comprehensive clinical workflow is outlined that integrates deep phenotyping, genomic variant identification, and functional validation with multi-omics approaches to enhance diagnostic accuracy in RDs and improve understanding of RDs within the framework of precision medicine.
J. Olival, J. Pijuan, Natàlia Caelles-Gramunt et al.· Archives of Medical Research· 0 citations
This Review highlights AI and ML frameworks for integrating genomic, multi-omics, and EHR data, and discusses how these approaches are reshaping genomics research as well as clinical practice.
Rasika Venkatesh, M. Ritchie· Nature reviews genetics· 0 citations
Overall, AI is being applied to pediatric genomics in many different ways, including: identifying individuals who may have genetic conditions and assisting in the diagnostic process; AI implementation in the laboratory-based genetic testing process; and how recent AI developments may support patient management as well...
Jack A Meltzer, Benjamin D. Solomon· Current opinion in pediatric...· 0 citations
This critical narrative review evaluates the strength, consistency and clinical relevance of the evidence supporting methods when they are applied specifically to the genome of a fetus in utero.
S. Bittmann, E. Luchter, E. Moschüring-Alieva· Asian Journal of Medicine an...· 0 citations
aiDIVA is presented, an ensemble-AI combining statistical and machine learning models trained on genomic and phenotypic data to identify causal variants among tens of thousands per patient, and applies a random forest model to classify pathogenicity and generates evidence-based scores for dominant and recessive disease...
D. Boceck, L. Laugwitz, M. Sturm et al.· npj Genomic Medicine· 1 citation
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