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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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Machine learning-based algorithms applied to drug prescriptions and other healthcare services in the Sicilian claims database to identify acromegaly as a model for the earlier diagnosis of rare diseases.
Salvatore Crisafulli et al. Sci Rep 2024 14(1) 6186
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Artificial intelligence in rare disease diagnosis and treatment.
Magda Wojtara et al. Clin Transl Sci 2023
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Precision information extraction for rare disease epidemiology at scale.
William Z Kariampuzha et al. Journal of translational medicine 2023 21(1) 157
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Weakly Semi-supervised Phenotyping Using Electronic Health Records.
Nogues Isabelle-Emmanuella et al. Journal of biomedical informatics 2022 104175
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Conception, Development and Validation of Classification Methods for Coding Support of Rare Diseases Using Artificial Intelligence.
Noll Richard et al. Studies in health technology and informatics 2022 295422-425
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The Impact of Wearable Technologies in Health Research: Scoping Review.
Huhn Sophie et al. JMIR mHealth and uHealth 2022 10(1) e34384
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Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.
Hasani Navid et al. PET clinics 2021 17(1) 13-29
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The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.
Tisdale Ainslie et al. Orphanet journal of rare diseases 2021 16(1) 429
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Progress, Challenges, and Global Approaches to Rare Diseases.
Groft Stephen C et al. Acta paediatrica (Oslo, Norway : 1992) 2021
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How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system.
Berger Alexandra et al. Orphanet journal of rare diseases 2021 16(1) 198
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[Evaluation of a future scenario concerning the use of big data applications to improve the care of people with rare diseases].
Sedlmayr Brita et al. Zeitschrift fur Evidenz, Fortbildung und Qualitat im Gesundheitswesen 2020 Nov
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Rare diseases 2030: how augmented AI will support diagnosis and treatment of rare diseases in the future.
Hirsch Martin Christian et al. Annals of the rheumatic diseases 2020 79(6) 740-743
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NIH-supported research survey to examine impact of COVID-19 on rare diseases community
NIH, May 7, 2020
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
Spiga Ottavia et al. Orphanet journal of rare diseases 2020 Feb 15(1) 46
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Improving rare disease classification using imperfect knowledge graph.
Li Xuedong et al. BMC medical informatics and decision making 2019 Dec 19(Suppl 5) 238
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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker Christoffer et al. Frontiers in genetics 2019 10611
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NIH-funded project aims to build a 'Google' for biomedical data
R Hailu, Stat News, July 31, 2019
Skin sensors are the future of health care
S Xu et al, Nature News, July 17, 2019
Electronic health record case studies to advance environmental public health tracking.
Namulanda Gonza et al. Journal of biomedical informatics 2018 7998-104
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Automated Detection of Macular Diseases by Optical Coherence Tomography and Artificial Intelligence Machine Learning of Optical Coherence Tomography Images.
Kuwayama Soichiro et al. Journal of ophthalmology 2019 20196319581
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How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases
JC Hu, NBC, January 4, 2016
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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