Sponsors

10-Year Health Plan: Human Phenotype Ontology Transformation

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Henry JA. 10-Year Health Plan: Human Phenotype Ontology Transformation. Pathology in Practice. 2025 August;26(5):53-59

 

1             Department of Health and Social Care. 10 Year Health Plan for England: fit for the future. (Gov.uk, 2025) www.gov.uk/government/publications/10-year-health-plan-for-england-fit-for-the-future

2             Henry JA (2025) Population health management of human phenotype ontology. Front. Artif. Intell. 8:1496935. doi:10.3389/frai.2025.1496935

3             Butler R, Williams R. Population Health Management: great data is coming, but questions can start right now. (Transformation Partners in Health and Care 2025) www.transformationpartners.nhs.uk/population-health-management-great-data-is-coming-but-questions-can-start-right-now/

4             Deshprabhu S. Federated quantum machine learning for genomics data. (NQCC, 2023) www.nqcc.ac.uk/federated-quantum-machine-learning-for-genomics-data/

5             Flöther FF, Blankenberg D, Demidik M, et al. How quantum computing can enhance biomarker discovery. Patterns. 2025 Jun 13;6(6). doi:10.48550/arxiv.2411.10511

6             Quazi F, Raju N, Kareem A. Exploring the Potential Impact of Future GPT Models in Healthcare: A Speculative Analysis. (Ssrn.com, 2024) https://papers.ssrn.com/sol3/papers.cfm?abstract_id=4969147

7             Putman TE, Schaper K, Matentzoglu N, et al. The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species. Nucleic Acids Res. 2024;52(D1):D938-D949. doi:10.1093/nar/gkad1082

8             Genomics England. Newborn Genomes Programme. (Genomics England, 2021)www.genomicsengland.co.uk/initiatives/newborns

9             Our Future Health. The UK’s largest ever health research programme to transform the prevention, detection and treatment of diseases. (Our Future Health, 2022) https://ourfuturehealth.org.uk/the-uks-largest-ever-health-research-programme-to-transform-the-prevention-detection-and-treatment-of-diseases/

10          Secomandi S, Gallo GR, Rossi R, et al. Pangenome graphs and their applications in biodiversity genomics. Nat Genet. 2025;57(1):13-26. doi:10.1038/s41588-024-02029-6

11          Genomic AI Network. Public Perspectives The use of AI in Genomic Medicine. (NHS, 2024) https://genomicainetwork.nhs.uk/wp-content/uploads/2025/04/AI-and-Genomics-Report-Final-1-compressed.pdf

12          Genomic AI Network. Resources - NHS Genomic AI Network. (NHS, 2025) https://genomicainetwork.nhs.uk/resources/

13          Genomic AI Network. Genomic AI Tool Log. (NHS, 2025) https://genomicainetwork.nhs.uk/wp-content/uploads/2025/01/Website-Version-260325.pdf

14          NHS Digital. AI knowledge repository. (NHS England, 2025) https://digital.nhs.uk/services/ai-knowledge-repository

15          UK Research and Innovation. £300 million to launch first phase of new AI Research Resource. (UKRI, 2023) www.ukri.org/news/300-million-to-launch-first-phase-of-new-ai-research-resource/

16          AISI. The AI Security Institute. (AISI, 2024) www.aisi.gov.uk

17          National Human Genome Research Institute. A new human ‘pangenome’ reference. (NIH, 2023) www.genome.gov/about-genomics/new-human-pangenome-reference

18          An U, Pazokitoroudi A, Alvarez M, et al. Deep learning-based phenotype imputation on population-scale biobank data increases genetic discoveries. Nat Genet. 2023;55(12):2269-2276. doi:10.1038/s41588-023-01558-w

19          NHS Digital. AI in practice. (NHS England, 2025) https://digital.nhs.uk/services/ai-knowledge-repository/ai-in-practice

20          National Institute of Health and Care Excellence. NICE announces proposals to transform its HealthTech programme to drive more technology into the NHS. (NICE, 2025) www.nice.org.uk/news/articles/nice-announces-proposals-to-transform-its-healthtech-programme-to-drive-more-technology-into-the-nhs

21          International Organization for Standardization. ISO 13485:2016. (ISO, 2018) www.iso.org/standard/59752.html

22          The Royal College of Pathologists. A new International Standard: the introduction of ISO 15189:2022. (RCPath, 2022) www.rcpath.org/discover-pathology/news/a-new-international-standard-the-introduction-of-iso-15189-2022.html

23          International Organization for Standardization. ISO/IEC JTC 1/SC 42 - Artificial intelligence. (ISO, 2017) www.iso.org/committee/6794475.html

24          International Organization for Standardization. ISO/IEC 27001 standard – information security management systems. (ISO, 2022) www.iso.org/standard/27001

25          International Organization for Standardization. The new frontier for artificial intelligence. (ISO, 2018) www.iso.org/news/ref2336.html

26          Healthcare Information and Management Systems Society. INFRAM: A Pathway to Infrastructure Maturity. (HIMSS, 2018) www.himss.org/news/infram-pathway-infrastructure-maturity

27          Newton S. Doctors against Palantir’s NHS software put ‘ideology over patient interest. (Msn.com, 2025) www.msn.com/en-gb/news/uknews/doctors-against-palantir-s-nhs-software-put-ideology-over-patient-interest/ar-AA1IbQ8f

 

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