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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)
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Last data update: May 03, 2024
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Cost-Effectiveness of Population-Based Multigene Testing for Breast and Ovarian Cancer Prevention.
Fangjian Guo et al. JAMA Netw Open 2024 7(2) e2356078
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Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Yiyi Zhang et al. JAMA Cardiol 2024
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Combined population genomic screening for three high-risk conditions in Australia: a modelling study.
Paul Lacaze et al. EClinicalMedicine 2024 66102297
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A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease.
Kristjan Norland et al. Eur J Hum Genet 2023
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Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia.
Akihiro Nomura et al. J Clin Lipidol 2023
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Screening and clinical characteristics analysis of familial hypercholesterolemia in a tertiary public hospital.
Tianzhou Shen et al. Front Cardiovasc Med 2023 101237261
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Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Manuela Casula et al. Atherosclerosis 2023 117231
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Prevalence of familial hypercholesterolemia in a country-wide laboratory network in Pakistan: 10-year data from 988, 306 patients.
Awais Farhad et al. Prog Cardiovasc Dis 2023
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Mendelian randomization evidence for the causal effects of socio-economic inequality on human longevity among Europeans.
Chao-Jie Ye et al. Nat Hum Behav 2023
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Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Niall J Lennon et al. medRxiv 2023
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LDLR gene's promoter region hypermethylation in patients with familial hypercholesterolemia.
R A Zorzo et al. Sci Rep 2023 13(1) 9241
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Coronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events
SS Khan et al, JAMA Network Open, May 23, 2023
Cost-effectiveness and Return on Investment of a Nationwide Case-Finding Program for Familial Hypercholesterolemia in Children in the Netherlands.
Zanfina Ademi et al. JAMA Pediatr 2023
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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Ozan Dikilitas et al. Circ Genom Precis Med 2023 16(2) e003816
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Ethical layering in AI-driven polygenic risk scores-New complexities, new challenges.
Marie-Christine Fritzsche et al. Frontiers in genetics 2023 141098439
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Familial Associations of Complete Atrioventricular Block: A National Family Study in Sweden.
Artur Fedorowski et al. Circulation. Genomic and precision medicine 2023 e003654
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Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Jacqueline S Dron et al. JAMA cardiology 2023
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Cardiovascular risk-enhancing factors and coronary artery calcium in South Asian American adults: The MASALA study.
Shah Harini et al. American journal of preventive cardiology 2023 13100453
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam et al, Nature Genetics, December 6, 2022
The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US.
Saadatagah Seyedmohammad et al. American journal of preventive cardiology 2022 12100393
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Prognostic Modelling Studies of Coronary Heart Disease-A Systematic Review of Conventional and Genetic Risk Factor Studies.
Nasr Nayla et al. Journal of cardiovascular development and disease 2022 9(9)
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Incremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease A Review
JW Gronedick et al, JAMA Internal Medicine, August 22, 2022
Predictive Utility of a Validated Polygenic Risk Score for Long-Term Risk of Coronary Heart Disease in Young and Middle-Aged Adults.
Khan Sadiya S et al. Circulation 2022 101161CIRCULATIONAHA121058426
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Leukocyte Telomere Length as a Molecular Biomarker of Coronary Heart Disease.
Zimnitskaya Olga V et al. Genes 2022 13(7)
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Use of Polygenic Risk Scores for Coronary Heart Disease in Ancestrally Diverse Populations.
Dikilitas Ozan et al. Current cardiology reports 2022
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Association Between Familial Hypercholesterolemia and Risk of Cardiovascular Events and Death in Different Cohorts: A Meta-Analysis of 1.1 Million Subjects.
Yu Yani et al. Frontiers in cardiovascular medicine 2022 9860196
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Coronary Heart Disease, Family History and Public Health: From Familial Hypercholesterolemia to Elevated Lipoprotein A
CDC Public Health Genomics Webinar, October 24, 2022
[Sudden cardiac death in young people and in adults: primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna].
Leone Ornella et al. Giornale italiano di cardiologia (2006) 2022 23(3) 200-210
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Common genetic variants do not predict recurrent events in coronary heart disease patients.
Thompson P L et al. BMC cardiovascular disorders 2022 22(1) 96
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Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes.
Tamlander Max et al. Communications biology 2022 5(1) 158
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 03, 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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