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Hot Topics of the Day|PHGKB
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05/29/2021

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

CRISPR diagnostics
OO Abudayyeh et al, Science May 28, 2021

CRISPR-based diagnostic (CRISPR-dx) tools offer a solution, and multiple CRISPR-dx products for detection of the SARS-CoV-2 RNA genome have been authorized by the US Food and Drug Administration (FDA). A new study describes a novel CRISPR-based tool to distinguish several SARS-CoV-2 variants in a single reaction.

Decomposition of the SARS-CoV-2-ACE2 interface reveals a common trend among emerging viral variants
E Socher et al, BIORXIV, May 28, 2021

The indirect effect of mRNA-based Covid-19 vaccination on unvaccinated household members
J Salo et al, MEDRXIV, May 29, 2021

Development and external validation of a diagnostic multivariable prediction model for a prompt identification of cases at high risk for SARS-COV-2 infection among patients admitted to the emergency department
N Ughi et al, MEDRXIV, May 29, 2021

Emergency department admissions during COVID-19: explainable machine learning to characterise data drift and detect emergent health risks
C Duckworth et al, MEDRXIV, May 29, 2021

Telomere biology disorders
MLW Kam et al, NPJ Genomic Medicine, May 28, 2021

A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognized.

Towards population-scale long-read sequencing
W de Coster et al, Nature Rev Genetics, May 28, 2021

We provide an overview of current long-read sequencing platforms, variant calling methodologies and approaches for de novo assemblies and reference-based mapping approaches. Furthermore, we summarize strategies for variant validation, genotyping and predicting functional impact and emphasize challenges remaining in achieving long-read sequencing at a population scale.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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