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Hot Topics of the Day|PHGKB
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03/22/2021

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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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
MF Murray et al, Genetics in Medicine, March 2021

The statement is to guide programs and sponsoring organizations that are considering DNA-based health screening. In aggregate, DNA-based screening efforts have the potential to improve population health, but only if risk identification is effectively combined with evidence-based risk-reducing clinical care.

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19
I Andolfo et al, IScience, March 2021

We performed an in-depth genetic analysis of chromosome 21 exploiting the genome-wide association study data, including 6,406 individuals hospitalized for COVID-19 and 902,088 controls with European genetic ancestry from the COVID-19 Host Genetics Initiative. We found that five single nucleotide polymorphisms within TMPRSS2 and near MX1 gene show associations with severe COVID-19. The minor alleles of the five SNPs correlated with a reduced risk of developing severe COVID-19 and high level of MX1 expression in blood.

Spatial technologies to strengthen traditional testing for SARS-CoV-2
S Yang, Trends in Microbiology, March 2021

Advanced spatial and digital technologies may help us take fuller advantage of limited testing resources to monitor the infection status of a large population in a cost-effective manner. Moreover, they may provide additional evidence to supplement results of nucleic acid testing for SARS-CoV-2, to decrease false negative and false positive rates.

Critical interactions for SARS-CoV-2 spike protein binding to ACE2 identified by machine learning
A Pavlova et al, BIORXIV, March 21, 2021

Changes in symptomatology, re-infection and transmissibility associated with SARS-CoV-2 variant B.1.1.7: an ecological study
MS Graham et al, MEDRXIV, March 21, 2021

DeepCOVID: An Operational Deep Learning-driven Framework for Explainable Real-time COVID-19 Forecasting
A Rodriguez et al, MEDRXIV, March 21, 2021

Predicting critical illness on initial diagnosis of COVID-19 based on easily-obtained clinical variables: Development and validation of the PRIORITY model
MM Lacalzada et al, MEDRXIV, March 21, 2021

Is “bioinformatics” dead?
P Bourne, PLOS Biology, March 2021

Now that I have your attention, clearly, bioinformatics as a field is very much alive. The name, however, no longer applies to what we actually do in the field. It is not what forward-thinking scientists should be calling themselves in this era of the fourth paradigm of data science [1], where data sharing lies at the core of biology. If you’re asking why anyone should care, let me explain.


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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