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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 01, 2024
. (Total: 63728 Documents since 2012)
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Efficient storage and regression computation for population-scale genome sequencing studies.
Manuel A Rivas et al. bioRxiv 2024
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Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing
Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Julie A Jurgens et al. medRxiv 2024
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Colorectal Cancer Risk between Mendelian and Non-Mendelian Inheritance.
Elizabeth A Hibler et al. Clin Colon Rectal Surg 2024 37(3) 140-145
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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
S Bahtia et al, EJHG, April 11, 2024
A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Carolyn M Brown et al. Eur J Hum Genet 2024
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The outcome of genetic and non-genetic pediatric cardiomyopathies.
Ali AlAlakhfash et al. Egypt Heart J 2024 76(1) 43
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Burden of Mendelian disorders in a large Middle Eastern biobank.
Waleed Aamer et al. Genome Med 2024 16(1) 46
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Gabrielle Lemire et al. Am J Hum Genet 2024
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Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Jessica Gold et al. medRxiv 2024
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Characterizing genetic profiles for high triglyceride levels in U.S. patients of African ancestry.
Lan Jiang et al. medRxiv 2024
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A New Cloud-Native Tool for Pharmacogenetic Analysis.
David Yu Yuan et al. Genes (Basel) 2024 15(3)
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024
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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 9(1) 23
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Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Maria T Papadopoulou et al. Epilepsia Open 2024
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Applications of genome sequencing as a single platform for clinical constitutional genetic testing
Y Yang et al, GIM Open, March 20, 2024
Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer.
Romain Boidot et al. Eur J Cancer 2024 202113978
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 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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Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service.
Jade Howard et al. J Med Genet 2024
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Viral genome sequencing to decipher in-hospital SARS-CoV-2 transmission events.
Elisabeth Esser et al. Sci Rep 2024 14(1) 5768
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Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.
Joshua J Nolan et al. Genet Med 2024 101103
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A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility.
Claudia Azuelos et al. Eur J Med Genet 2024 104925
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Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Ben Weisburd et al. medRxiv 2024
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
J Pucel et al, Genetics in Medicine, March 1, 2024
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Kristen M Wigby et al. NPJ Genom Med 2024 9(1) 15
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
Stephen F Kingsmore et al. NPJ Genom Med 2024 9(1) 17
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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
M Galey et al, GIM Open, February 24, 2024
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 01, 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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