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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: Mar 28, 2024
. (Total: 63390 Documents since 2012)
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Whole genome sequencing[original query]>>Original Studies[Product Type]
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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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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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk
M Galey et al, GIM Open, February 24, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom et al. JAMA Netw Open 2024 7(2) e240146
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A call for increased inclusivity and global representation in pharmacogenetic testing.
April Kennedy et al. NPJ Genom Med 2024 9(1) 13
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Genomic data in the All of Us Research Program
All of Us, Nature, February 19, 2024
Wales Infants' and childreN's Genome Service (WINGS): providing rapid genetic diagnoses for unwell children.
Emily Sloper et al. Arch Dis Child 2024
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A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.
Claude Bhérer et al. NPJ Genom Med 2024 9(1) 8
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Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.
E Westenius et al. Ultrasound Obstet Gynecol 2024
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Megan J Puckelwartz et al. Genome Med 2024 16(1) 13
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Development and validation of a quick, automated, and reproducible ATR FT-IR spectroscopy machine-learning model for Klebsiella pneumoniae typing.
Ângela Novais et al. J Clin Microbiol 2024 e0121123
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Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Michele P Migliavacca et al. Am J Med Genet A 2024
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Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
Mario Cesare Nurchis et al. JAMA Netw Open 2024 7(1) e2353514
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Association of Family History and Polygenic Risk Score With Longitudinal Prognosis in Parkinson Disease.
Mincheol Park et al. Neurol Genet 2024 10(1) e200115
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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
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
L AlAbdi et al, Genome Medicine, December 14, 2023
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis
H Xiao et al, Genome Medicine, December 13, 2023
Genomic instability analysis in DNA from Papanicolaou test provides proof-of-principle early diagnosis of high-grade serous ovarian cancer.
Lara Paracchini et al. Sci Transl Med 2023 15(725) eadi2556
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Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.
Chunhua Weng et al. Res Sq 2023
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Dorte L Lildballe et al. Eur J Med Genet 2023 104872
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APOE Genotype and Alzheimer Disease Risk Across Age, Sex, and Population Ancestry.
Michael E Belloy et al. JAMA Neurol 2023
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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
F Guo et al, Genetics in Medicine, October 12, 2023
Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
M Peter et al, EJHG, October 3, 2023
Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing.
Cynthia Addona et al. Epilepsy Res 2023 196107221
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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.
Weifang Tian et al. Eur J Med Res 2023 28(1) 304
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Integrating Genome-wide information and Wearable Device Data to Explore the Link of Anxiety and Antidepressants with Heart Rate Variability.
Eleni Friligkou et al. medRxiv 2023
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Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
Gustavs Latkovskis et al. J Clin Med 2023 12(15)
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 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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