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Hot Topics of the Day|PHGKB
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05/28/2020

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

Digital Health Equity as a Necessity in the 21st Century Cures Act Era
JA Rodriguez et al, JAMA, May 28, 2020

Improvements in patient self-management, care coordination, quality, and cost-effectiveness may be stymied by persisting digital divides. Given the recognition of the higher morbidity and mortality for underserved patients with COVID-19, including African Americans, understanding and eliminating these digital divides are critical.

gnomAD
Nature special collection, May 27, 2020

gnomAD has aggregated 15,708 whole genomes and 125,748 exomes (the protein-coding part of the genome). Analyses of this rich resource have created a catalogue of the different types of variation present, and revealed their potential functional impact and how this information could help to identify disease-causing mutations and to prioritize potential drug targets.

Thousands of human sequences provide deep insight into single genomes
DM Church, Nature News, May 27, 2020

A massive genome-sequencing and analysis effort has produced the most comprehensive sets of data and tools for understanding human genetic variation so far. The resource will be invaluable to biologists of every stripe.

Proteomic and Metabolomic Characterization of COVID-19 Patient Sera
B Shen et al, Cell, May 27, 2020

93 proteins show differential expression in severe COVID-19 patient sera. 204 metabolites in COVID-19 patient sera correlate with disease severity. A model composed of 29 serum factors shows patient stratification potential. Pathway analysis highlights metabolic and immune dysregulation in COVID-19 patients.

Remdesivir — An Important First Step
R Dolin et al, NEJM, May 27, 2020

Twitter discussions and concerns about COVID-19 pandemic: Twitter data analysis using a machine learning approach
J Xue et al, ARXIV, May 26, 2020

CoVista: A Unified View on Privacy Sensitive Mobile Contact Tracing Effort
D Culler et al, ARXIV, May 27, 2020

Asymptomatic Transmission, the Achilles’ Heel of Current Strategies to Control Covid-19
M Ghandi et al NEJM, May 27,2020

The rapid spread of Covid-19 across the United States and the globe, the clear evidence of SARS-CoV-2 transmission from asymptomatic persons,5 and the eventual need to relax current social distancing practices argue for broadened SARS-CoV-2 testing to include asymptomatic persons in prioritized settings.

Impact of Comorbidities on the Expression of SARS-CoV-2 Viral Entry-Related Genes
JD Breidenbach et al, BIORXIV, May 27, 2020

Geospatial precision simulations of community confined human interactions during SARS-CoV-2 transmission reveals bimodal intervention outcomes
B Goldenbogen et al, MEDRXIV, May 27, 2020

Multivariate Prediction Network Model for epidemic progression to study the effects of lockdown time and coverage on a closed community on theoretical and real scenarios of COVID-19.
DM Abramov et al, MEDRXIV, May 27, 2020

Automated and partially-automated contact tracing: a rapid systematic review to inform the control of COVID-19
I Braithwaite et al, MEDRXIV, May 28, 2020

A milestone in human genetics highlights diversity gaps
Nature editorial, May 27, 2020

Landmark study identifies the genes that it seems people can and cannot live without and highlights ongoing challenges in making data sets more representative of the world’s population.

Evaluating drug targets through human loss-of-function genetic variation
EV Minikel et al, Nature, May 27, 2020

Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key findings regarding the assessment of candidate drug targets using human loss-of-function variants.

How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens
R O'Shea et al, Genetics in Medicine, May 28, 2020

Qualitative interviews were designed using the Consolidated Framework for Implementation Research. Questions included experiences or views of the BRCA testing processes, implementation needs of oncology health professionals, perceived challenges, and future ideas for interventions to integrate genetic testing into oncology.

Using genetics to prioritize diagnoses for rheumatology outpatients with inflammatory arthritis
R Knevel et al, Sci Trans Medicine, May 27, 2020

The study shows that genetic data could be used to triage inflammatory arthritis–causing diagnoses at a patient’s first visit, improving the likelihood of a correct initial diagnosis and potentially expediting appropriate treatment. The genetic diagnostic tool is optimized for rheumatic disease diagnosis.


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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