Last Posted: May 11, 2021
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
D Beyter et al, Nature Genetics, May 10, 2021
- Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R Schule et al, EJHG, May 10, 2021
- Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Stephenson Kirk A J et al. Orphanet journal of rare diseases 2021 16(1) 200
- Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH.
Kucharík Marcel et al. Diagnostics (Basel, Switzerland) 2021 11(4)
- Early technology assessment of using whole genome sequencing in personalised oncology.
Simons Martijn et al. Expert review of pharmacoeconomics & outcomes research 2021
- Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun Hui et al. Life (Basel, Switzerland) 2021 11(4)
- SARS-CoV-2 Genome Sequencing Methods Differ In Their Ability To Detect Variants From Low Viral Load Samples
Lam C, et al. bioRxiv, May 3, 2021.
- Temporal Dynamics and Evolution of SARS-CoV-2 Demonstrate the Necessity of Ongoing Viral Genome Sequencing in Ontario, Canada
Sjaarda CP, et al. mSphere. 2021 May 5;6(3):e00011-21.
- Rapid Emergence and Epidemiologic Characteristics of the SARS-CoV-2 B.1.526 Variant — New York City, New York, January 1–April 5, 2021
CN THompson et al, CDC MMWR, May 5, 2021
- Use of whole genome sequencing to investigate a cluster of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infections in emergency department personnel.
Chan Ernest R et al. Infection control and hospital epidemiology 2021 5 1-10
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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.