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.
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
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.