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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 18, 2024
. (Total: 63623 Documents since 2012)
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Cost-effectiveness[original query]>>Original Studies[Product Type]
Assisting the implementation of screening for type 1 diabetes by using artificial intelligence on publicly available data.
Pedro F Teixeira et al. Diabetologia 2024
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Measuring Costs of Cardiovascular Disease Prevention for Patients with Familial Hypercholesterolemia in Administrative Claims Data.
Lauren E Passero et al. High Blood Press Cardiovasc Prev 2024
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Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
Mario Cesare Nurchis et al. JAMA Netw Open 2024 7(1) e2353514
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Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada.
Dean A Regier et al. Genet Med 2024 101069
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Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors' and patients' perspective.
Wei Leik Ng et al. PLoS One 2024 19(1) e0296498
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Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada
DA Regier et al, Genetics in Medicine, January 8, 2024
Sotorasib versus Docetaxel for treatment of US and Chinese patients with advanced non-small-cell lung cancer with KRAS p.G12C-mutated: A cost-effectiveness analysis to inform drug pricing.
Yunlin Jiang et al. Medicine (Baltimore) 2023 102(50) e36387
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Opportunistic Screening for Asymptomatic Left Ventricular Dysfunction Using Electrocardiographic Artificial Intelligence: A Cost-Effective Approach.
Wei-Ting Liu et al. Can J Cardiol 2023
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Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
Juliann M Savatt et al. JAMA Netw Open 2023 6(10) e2338995
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Single-Step IGHV Next-Generation Sequencing Detects Clonality and Somatic Hypermutation in Lymphoid Malignancies: A Phase III Diagnostic Accuracy Study.
Anna Gazzola et al. Cancers (Basel) 2023 15(18)
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Combinatorial Use of Machine Learning and Logistic Regression for Predicting Carotid Plaque Risk Among 5.4 Million Adults With Fatty Liver Disease Receiving Health Check-Ups: Population-Based Cross-Sectional Study.
Yuhan Deng et al. JMIR Public Health Surveill 2023 9e47095
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Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia
CK Law et al, Genetics in Medicine, August 30, 2023
Implementation and Feasibility of Clinical Genome Sequencing Embedded Into the Outpatient Nephrology Care for Patients With Proteinuric Kidney Disease.
Maddalena Marasa et al. Kidney Int Rep 2023 8(8) 1638-1647
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Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Bennett Oh Vic Shum et al. Clin Chem 2023
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Real World Validation of an Adjunctive Gene Expression Profiling Assay for Melanoma Diagnosis and Correlation with Clinical Outcomes at an Academic Center.
W Boothby-Shoemaker et al. Hum Pathol 2023
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Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.
Mario Cesare Nurchis et al. J Pers Med 2023 13(6)
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The clinical utility of rapid exome sequencing in a consanguineous population.
Dorota Monies et al. Genome Med 2023 15(1) 44
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The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study.
Deborah Schofield et al. Med J Aust 2023
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An updated examination of the perception of barriers for pharmacogenomics implementation and the usefulness of drug/gene pairs in Latin America and the Caribbean.
Aimeé Salas-Hernández et al. Front Pharmacol 2023 141175737
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Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Robert C Green et al. Am J Hum Genet 2023
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An artificial intelligence based app for skin cancer detection evaluated in a population based setting.
Anna M Smak Gregoor et al. NPJ Digit Med 2023 6(1) 90
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Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.
Mikey B Lebrett et al. Genet Med 2023 100882
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A comparison of the Netherlands, Norway and UK familial hypercholesterolemia screening programmes with implications for target setting and the UK's NHS long term plan.
Christopher Page et al. PLOS Glob Public Health 2023 3(4) e0001795
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The Real-World Clinical Impact of Plasma mNGS Testing: an Observational Study.
Dongsheng Han et al. Microbiology spectrum 2023 e0398322
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Recalibration of a Deep Learning Model for Low-Dose Computed Tomographic Images to Inform Lung Cancer Screening Intervals.
Rebecca Landy et al. JAMA network open 2023 6(3) e233273
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.
Shona M Kerr et al. European journal of human genetics : EJHG 2023
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Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Yulin Zhou et al. Cytogenetic and genome research 2023 1-11
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Cost-Utility Analysis of Deep Learning and Trained Human Graders for Diabetic Retinopathy Screening in a Nationwide Program.
Attasit Srisubat et al. Ophthalmology and therapy 2023
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Genome tumor profiling in endometrial cancer and clinical relevance in endometrial cancer management: a retrospective single-center experience.
Vanda Salutari et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2023
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Predicting no-show appointments in a pediatric hospital in Chile using machine learning.
J Dunstan et al. Health care management science 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 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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