Last Posted: Sep 02, 2021
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.
Morris E et al. Human genetics 2021
- Applying low coverage whole genome sequencing to detect malignant ovarian mass.
Chen Ming et al. Journal of translational medicine 2021 19(1) 369
- Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
Su Meng et al. Journal of genetic counseling 2021
- Genomic Analysis Reveals Heterogeneity Between Lesions in Synchronous Primary Right-Sided and Left-Sided Colon Cancer.
Hu Hanqing et al. Frontiers in molecular biosciences 2021 8689466
- Influence of fibroids on cell-free DNA screening accuracy.
Scott F et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
- Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield Eden V et al. BMC medicine 2021 19(1) 199
- [Genetic etiology of newborn deaths].
Mei H F et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 59(7) 570-575
- Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
Trakadis Y et al. Neurogenetics 2021
- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai Pratibha et al. Frontiers in genetics 2021 12698595
- Validation of ctDNA Quality Control Materials Through a Precompetitive Collaboration of the Foundation for the National Institutes of Health.
Williams P Mickey et al. JCO precision oncology 2021 5
- Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA
JD Finkle et al, NPJ Precision Oncology, July 2021
- Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
ACMG Board of Directors, Genetics in Medicine, June 28, 2021
- Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou Dongfang et al. Brain : a journal of neurology 2021
- Genome-wide cell-free DNA screening: a focus on copy-number variants
J Rafalko et al, Genetics in Medicine, June 21, 2021
- Clinical and genetic findings in patients with congenital cataract and heart diseases.
Li Xinru et al. Orphanet journal of rare diseases 2021 16(1) 242
- Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.
Wain Karen E et al. Journal of personalized medicine 2021 11(5)
- Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Monier Isabelle et al. American journal of obstetrics and gynecology 2021
- CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Requena Francisco et al. Nucleic acids research 2021
- One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln Stephen E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in Israel.
Reznick Levi Gili et al. Familial cancer 2021
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.