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Hot Topics of the Day|PHGKB
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10/15/2020

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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Estimating Nonfatal Gunshot Injury Locations With Natural Language Processing and Machine Learning Models
ST Parker, JAMA Network Open, October 14, 2020

This is a cross-sectional study of data from the National Electronic Injury Surveillance System Firearm Injury Surveillance Study on nonfatal gunshot injuries that occurred in the US. Using machine learning models for classifying gunshot injury location found that most nonfatal gunshot injuries occur in the street or highway rather than in the home.

Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis et al, Nature, October 14, 2020

We integrate healthcare and research exome-sequence data from 31,058 parent–offspring trios of individuals with developmental disorders. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders.

People with blood type O may have lower risk of Covid-19 infection and severe illness, two new studies suggest
K Hunt el al, CNN, October 14, 2020

Safety and Immunogenicity of Two RNA-Based Covid-19 Vaccine Candidates
EE Walsh et al, NEJM, October 15, 2020

195 participants underwent randomization. In each of 13 groups of 15 participants, 12 participants received vaccine and 3 received placebo. BNT162b2 was associated with a lower incidence and severity of systemic reactions than BNT162b1. The vaccine candidates elicited similar dose-dependent neutralizing geometric mean titers, which were similar to or higher than the geometric mean titer of a panel of convalescent serum samples.

Genetic Risk of Severe Covid-19
A Kaser October 15, NEJM, 2020

A genomewide association study of severe Covid-19 therefore represents a major leap toward disentangling the molecular mechanisms that cause severe Covid-19. Patients with blood group A had an increased risk of severe Covid-19, and those with blood group O had a decreased risk. A strong signal was the rs11385942 insertion–deletion GA or G variant at locus 3p21.31.

A Strong Start: Enhancing Newborn Screening for Precision Public Health
D Jones et al, CDC Blog Post, October 13, 2020 Brand

Genome sequencing can help enhance newborn screening programs by providing more information beyond traditional biochemical and other tests. Not all states have the expertise needed to interpret results, A recent pilot project in Utah showed how an existing open-source data standard can successfully be used to transmit newborn screening genomic data.


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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