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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)
Rare Diseases
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
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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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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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Cultural adaptations to a telephone genetic counseling protocol and booklet for Latina breast cancer survivors at risk for hereditary breast and ovarian cancer.
Sara Gómez-Trillos et al. Translational behavioral medicine 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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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen Edwin S et al. NPJ genomic medicine 2022 7(1) 35
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[Artificial intelligence-based literature data warehouse for vaccine safety].
Yang Y et al. Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 2022 43(3) 431-435
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A preliminary application of a haemophilia value framework to emerging therapies in haemophilia.
Skinner Mark W et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 28 Suppl 29-18
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[HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer].
Engel Christoph et al. Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany)) 2021 83(S 01) S12-S17
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A risk prediction tool for individuals with a family history of breast, ovarian, or pancreatic cancer: BRCAPANCPRO.
Blackford Amanda L et al. British journal of cancer 2021
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A More Universal Approach to Comprehensive Analysis of ThalaSsemia Alleles (CATSA).
Liang Qiaowei et al. The Journal of molecular diagnostics : JMD 2021
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Clinical utility gene card for: Long-QT syndrome.
Beckmann Britt M et al. European journal of human genetics : EJHG 2021
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Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors.
Berliner Janice L et al. Journal of genetic counseling 2021 Jan
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CanRisk Tool - A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants.
Carver Tim et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Dec
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Malaria Screener: a smartphone application for automated malaria screening.
Yu Hang et al. BMC infectious diseases 2020 Nov 20(1) 825
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Training courses on hereditary breast and ovarian cancer to strengthen cross-sectoral care in underserved areas.
Kühn Friedrich et al. Patient education and counseling 2020 Nov
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DINAX- a comprehensive database of inherited ataxias.
Chaudhari Sima et al. Computers in biology and medicine 2020 Sep 126104000
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Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
Lee Sang-Yeon et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(9)
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Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun
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Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report
S Begley. Stat News, October 21, 2019
The Colorectal Cancer Risk Assessment Tool
NCI, 2019
The Community Counts Data Visualization Tool
CDC, 2019
Development of the Hereditary Angioedema Rapid Triage (HAE-RT) Tool.
Betschel Stephen et al. The journal of allergy and clinical immunology. In practice 2019 Jun
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Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun
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A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Crow Rebecca A et al. Trials 2018 May 19(1) 291
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2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.
Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov
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A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7
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SMART Cancer Navigator: A Framework for Implementing ASCO Workshop Recommendations to Enable Precision Cancer Medicine.
Warner Jeremy L et al. JCO precision oncology 2018 2018
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 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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