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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: May 02, 2024
. (Total: 63767 Documents since 2012)
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A qualitative feasibility study of a prototype patient-centered video intervention to increase uptake of cancer genetic testing among Black Americans.
Katherine Clegg Smith et al. Pilot Feasibility Stud 2024 10(1) 62
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Unlocking the genomic landscape: Results of the Beyond 1 Million Genomes (B1MG) pilot in Belgium towards Genomic Data Infrastructure (GDI).
Tugce Schmitt et al. Health Policy 2024 143105060
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Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population.
Li Tan et al. Mol Genet Genomic Med 2024 12(4) e2425
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All you Need is Trust? Public Perspectives on Consenting to Participate in Genomic Research in the Sri Lankan District of Colombo.
Krishani Jayasinghe et al. Asian Bioeth Rev 2024 16(2) 281-302
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Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
J Chiang et al, NPJ Genomic Medicine, April 5, 2024
Barriers and Unequal Access to Timely Molecular Testing Results: Addressing the Inequities in Cancer Care Delays across Canada.
Stephanie Snow et al. Curr Oncol 2024 31(3) 1359-1375
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Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
M Viggiano et al, NPJ Genomic Medicine, March 22, 2024
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.
D Gareth Evans et al. Fam Cancer 2024
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[Return of Individual Genomic Results to Germline Pathogenic Variant Carriers of Hereditary Cancer in Population Based Cohort Study].
Kinuko Ohneda et al. Gan To Kagaku Ryoho 2024 51(3) 231-236
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Genomes in clinical care
O Riess et al, NPJ Genomic Medicine, March 14, 2024
The development of inherited cardiac conditions services: current position and future perspectives.
Thomas Alway et al. Br Med Bull 2024
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Genetic literacy among primary care physicians in a resource-constrained setting.
Pascale E Karam et al. BMC Med Educ 2024 24(1) 140
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The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.
Catherine Huntley et al. EClinicalMedicine 2024 69102465
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Implementing mainstream genetic counseling within the area-wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GD-HBOC): Satisfaction of primary care providers with the provided state-of-the-art training by the Cologne Center.
Natalie Herold et al. J Genet Couns 2024
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Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study.
Alissa M D'Gama et al. BMJ Open 2024 14(2) e080529
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Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues.
Kate Sahan et al. J Med Ethics 2024
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Access, autonomy, and affordability: ethical and human rights issues surrounding multigene panel testing for cancer in Japan and Switzerland.
Kate Nakasato et al. Front Genet 2024 151343720
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The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
H Gaydarska et al, EJHG, February 15, 2024
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Joie O Olayiwola et al. Mol Genet Genomic Med 2024 e2349
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Clinical value of positive CNVs results by NIPT without fetal ultrasonography-identified structural anomalies.
Changhong Wang et al. Mol Genet Genomic Med 2024 12(1) e2352
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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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Patient survey on cancer genomic medicine in Japan under the national health insurance system.
Hidenori Kage et al. Cancer Sci 2024
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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Ziyang Cao et al. Mol Genet Genomic Med 2024 12(1) e2357
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Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.
Abimbola M Oladayo et al. AJOB Empir Bioeth 2024 1-14
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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
Diagnostic delay in monogenic disease: a scoping review
RJ Tinker et al, Genetics in Medicine, January 18, 2024
Embedding genomics across the NHS: a primary care perspective.
Judith Hayward et al. Future Healthc J 2024 10(3) 263-269
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Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
Z Fehlberg et al, EJHG, January 12, 2023
Characterizing the pathogenicity of genetic variants: the consequences of context.
Timothy H Ciesielski et al. NPJ Genom Med 2024 9(1) 3
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Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Y Mavura et al, NPJ Genomic Medicine, January 3, 2024
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 02, 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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