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Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
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Public Health Genomics Branch
PHGKB Weekly Horizon Scan
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Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
. (Total: 63390 Documents since 2012)
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Genetic testing for unexplained epilepsy: A review of diagnostic approach, benefits, and referral algorithm.
Alexis Karlin et al. Curr Probl Pediatr Adolesc Health Care 2024 101579
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Compassion and equity-focused clinical genomics training for health professional learners.
Taylor J Berninger et al. J Genet Couns 2024
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From intention to action: Assessing need and creating a JEDI toolkit for individuals teaching cancer genetics curriculum.
Jamie Paysour et al. J Genet Couns 2024
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Machine Learning and Health Science Research: Tutorial.
Hunyong Cho et al. J Med Internet Res 2024 26e50890
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Genomic Medicine Guidance: A Point-of-Care App for Heritable Thoracic Aortic Diseases.
Rohan Patil et al. medRxiv 2024
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Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records.
Mauricio Brunner et al. Stud Health Technol Inform 2024 310996-1000
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Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.
M CLausen et al, Genetics in Med Open, January 24, 2024
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Brynn Levy et al. Am J Hematol 2024
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COSMIC: a curated database of somatic variants and clinical data for cancer.
Zbyslaw Sondka et al. Nucleic Acids Res 2024 52(D1) D1210-D1217
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A cross-professional competency framework for communicating genomic results.
Amanda Pichini et al. J Genet Couns 2023
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Kee Chan et al. Int J Neonatal Screen 2023 9(4)
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A decision-making framework for genomic testing in paediatric nephrology.
Inez Beadell et al. J Paediatr Child Health 2023
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A framework for integrating artificial intelligence for clinical care with continuous therapeutic monitoring.
Emma Chen et al. Nat Biomed Eng 2023
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A Framework to Guide Implementation of AI in Health Care: Protocol for a Cocreation Research Project.
Per Nilsen et al. JMIR Res Protoc 2023 12e50216
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A software tool to adjust codeine dose based on CYP2D6 gene-pair polymorphisms and drug-drug interactions.
Yolande Saab et al. Pharmacogenomics J 2023
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A framework for evaluating long-term impact of newborn screening
S Kalkman et al, EJHG, October 3, 2023
PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.
Amy J Turner et al. Clin Pharmacol Ther 2023
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Feasibility and accuracy of the screening for diabetic retinopathy using a fundus camera and an artificial intelligence pre-evaluation application.
A Piatti et al. Acta Diabetol 2023
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Recommendations for the use of pediatric data in artificial intelligence and machine learning ACCEPT-AI
V Muralidahan et al. NPJ Digital Medicine, September 6, 2023
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Thomas P Spargo et al. Amyotroph Lateral Scler Frontotemporal Degener 2023 1-10
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Engaging Students in Pharmacogenetics: Patient Case Studies Using the PharmGKB Website.
Andrea M Mosquera et al. CourseSource 2023 10
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Utilising the precision nutrition toolkit in the path towards precision medicine.
Caleigh Sawicki et al. Proc Nutr Soc 2023 1-11
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A framework for identifying targets for individualized therapy in genetic disease.
et al. Nature 2023
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A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.
Leah P Macfadyen et al. J Genet Couns 2023
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Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource.
Aly Khalifa et al. Stud Health Technol Inform 2023 305398-401
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Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Essi Viippola et al. Int J Epidemiol 2023
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DEPLOYR: a technical framework for deploying custom real-time machine learning models into the electronic medical record.
Conor K Corbin et al. J Am Med Inform Assoc 2023
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Immersive training of clinical decision making with AI driven virtual patients - a new VR platform called medical tr.AI.ning.
Marvin Mergen et al. GMS J Med Educ 2023 40(2) Doc18
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Tracking genetic variants in the biomedical literature using LitVar 2.0.
Alexis Allot et al. Nat Genet 2023 55(6) 901-903
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DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Julia Foreman et al. Annu Rev Genomics Hum Genet 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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