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Public Health Genomics and Precision Health Knowledge Base (v8.2)
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Last data update: Jan 31, 2023
. (Total: 52373 Documents since 2012)
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Putting undergraduate medical students in AI-CDSS designers' shoes: An innovative teaching method to develop digital health critical thinking.
Rosy Tsopra et al. International journal of medical informatics 2023 171104980
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MyLynch: A Patient-Facing Clinical Decision Support Tool for Genetically-Guided Personalized Medicine in Lynch Syndrome.
Knapp Stephen T et al. Cancers 2023 15(2)
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The Risk-Reducing Effect of Aspirin in Lynch Syndrome Carriers: Development and Evaluation of an Educational Leaflet.
Kaur Rajneesh et al. Advanced genetics (Hoboken, N.J.) 2023 3(2) 2100046
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Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.
Wand Hannah et al. Journal of genetic counseling 2023
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Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque Marion et al. Rheumatology (Oxford, England) 2022
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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo Thomas P et al. Genome medicine 2022 14(1) 141
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How to estimate heritability: a guide for genetic epidemiologists.
Barry Ciarrah-Jane S et al. International journal of epidemiology 2022
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Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394
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How to Run the Pharmacogenomics Clinical Annotation Tool (PharmCAT).
Li Binglan et al. Clinical pharmacology and therapeutics 2022
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira Elise A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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Tutorial: Using Community Engagement Studios to Enhance Pharmacogenetic Study Design for Maximizing Enrollment of Diverse Children and Pregnant People.
Jasper Elizabeth A et al. Clinical pharmacology and therapeutics 2022
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Information System for Integration of Genetic Information and Clinical Knowledge.
Huptych Michal et al. Studies in health technology and informatics 2022 299208-213
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VariantAlert: a web-based tool to notify updates in genetic variant annotations.
Atzeni Rossano et al. Human mutation 2022
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PharmaKoVariome database for supporting genetic testing.
Kim Jungeun et al. Database : the journal of biological databases and curation 2022 2022
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Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships.
Billawala Thalia et al. HGG advances 2022 3(4) 100140
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Assessing the Impact of Developments in Genetic Testing on Insurers' Risk Exposure.
Rodriguez-Rincon Daniela et al. Rand health quarterly 2022 9(4) 5
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Breast Cancer Awareness Month 2022 Digital Media Toolkit
CDC, October 5, 2022
CODE-EHR best practice framework for the use of structured electronic healthcare records in clinical research.
Kotecha Dipak et al. European heart journal 2022 43(37) 3578-3588
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An ML-Enabled Internet of Things Framework for Early Detection of Heart Disease.
Muhammad Yar et al. BioMed research international 2022 20223372296
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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Chopra Maya et al. Molecular therapy. Methods & clinical development 2022 2732-46
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.
Peng Gang et al. International journal of neonatal screening 2022 8(3)
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Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Lee Angela et al. Missouri medicine 2022 119(4) 390-396
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CGV: Cancer Genome Viewer, a web service for integrative cancer genome and pharmacogenomic data analysis.
Choi Ji-Hye et al. Bioinformatics (Oxford, England) 2022
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2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Massingham Lauren J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.
Page Madeline L et al. Communications biology 2022 5(1) 899
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A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings.
Sperber Nina R et al. Journal of personalized medicine 2022 12(8)
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AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth Johann et al. Human mutation 2022
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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier M A et al. Journal of biomedical informatics 2022 104174
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
J Peng et al, IJNS, August 29, 2022
Development and Validation of the Minnesota Assessment of Pharmacogenomic Literacy (MAPLTM)
JD Allen et al, J Per Med, August 29, 2022
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Page last reviewed:
Jul 25, 2022
Page last updated:
Jan 31, 2023
Content source:
Office of Genomics and Precision Public Health
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