Can AI reveal the next generation of high-impact bone genomics targets?

Genetic studies have revealed hundreds of loci associated with bone-related phenotypes, including bone mineral density (BMD) and fracture risk. However, translating discovered loci into effective new therapies remains challenging. We review success stories including PCSK9-related drugs in cardiovasc...

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Main Authors: Casey S. Greene, Christopher R. Gignoux, Marc Subirana-Granés, Milton Pividori, Stephanie C. Hicks, Cheryl L. Ackert-Bicknell
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Bone Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352187225000166
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author Casey S. Greene
Christopher R. Gignoux
Marc Subirana-Granés
Milton Pividori
Stephanie C. Hicks
Cheryl L. Ackert-Bicknell
author_facet Casey S. Greene
Christopher R. Gignoux
Marc Subirana-Granés
Milton Pividori
Stephanie C. Hicks
Cheryl L. Ackert-Bicknell
author_sort Casey S. Greene
collection DOAJ
description Genetic studies have revealed hundreds of loci associated with bone-related phenotypes, including bone mineral density (BMD) and fracture risk. However, translating discovered loci into effective new therapies remains challenging. We review success stories including PCSK9-related drugs in cardiovascular disease and evidence supporting the use of human genetics to guide drug discovery, while highlighting advances in artificial intelligence and machine learning with the potential to improve target discovery in skeletal biology. These strategies are poised to improve how we integrate diverse data types, from genetic and electronic health records data to single-cell profiles and knowledge graphs. Such emerging computational methods can position bone genomics for a future of more precise, effective treatments, ultimately improving the outcomes for patients with common and rare skeletal disorders.
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spelling doaj-art-e1b638b4a45e4db5926b734e10a1005f2025-08-20T02:07:40ZengElsevierBone Reports2352-18722025-06-012510183910.1016/j.bonr.2025.101839Can AI reveal the next generation of high-impact bone genomics targets?Casey S. Greene0Christopher R. Gignoux1Marc Subirana-Granés2Milton Pividori3Stephanie C. Hicks4Cheryl L. Ackert-Bicknell5Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Corresponding author at: Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA.Department of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USADepartment of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USADepartment of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USADepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA; Malone Center for Engineering in Healthcare, Johns Hopkins University, Baltimore, MD, USADepartment of Biomedical Informatics, University of Colorado School of Medicine, Aurora, CO, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA; Colorado Program for Musculoskeletal Research, Department of Orthopedics, University of Colorado School of Medicine, Aurora, CO, USAGenetic studies have revealed hundreds of loci associated with bone-related phenotypes, including bone mineral density (BMD) and fracture risk. However, translating discovered loci into effective new therapies remains challenging. We review success stories including PCSK9-related drugs in cardiovascular disease and evidence supporting the use of human genetics to guide drug discovery, while highlighting advances in artificial intelligence and machine learning with the potential to improve target discovery in skeletal biology. These strategies are poised to improve how we integrate diverse data types, from genetic and electronic health records data to single-cell profiles and knowledge graphs. Such emerging computational methods can position bone genomics for a future of more precise, effective treatments, ultimately improving the outcomes for patients with common and rare skeletal disorders.http://www.sciencedirect.com/science/article/pii/S2352187225000166Machine learningArtificial intelligenceGeneticsSystems biologyTarget discoveryKnowledge graph
spellingShingle Casey S. Greene
Christopher R. Gignoux
Marc Subirana-Granés
Milton Pividori
Stephanie C. Hicks
Cheryl L. Ackert-Bicknell
Can AI reveal the next generation of high-impact bone genomics targets?
Bone Reports
Machine learning
Artificial intelligence
Genetics
Systems biology
Target discovery
Knowledge graph
title Can AI reveal the next generation of high-impact bone genomics targets?
title_full Can AI reveal the next generation of high-impact bone genomics targets?
title_fullStr Can AI reveal the next generation of high-impact bone genomics targets?
title_full_unstemmed Can AI reveal the next generation of high-impact bone genomics targets?
title_short Can AI reveal the next generation of high-impact bone genomics targets?
title_sort can ai reveal the next generation of high impact bone genomics targets
topic Machine learning
Artificial intelligence
Genetics
Systems biology
Target discovery
Knowledge graph
url http://www.sciencedirect.com/science/article/pii/S2352187225000166
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