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Hot Topics of the Day|PHGKB
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10/11/2023

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

Prevalence and course of pregnancy symptoms using self-reported pregnancy app symptom tracker data
M Nissen et al, NPJ Digital Medicine, October 11, 2023

From the abstract: "We report real-world evidence from patient-reported outcomes that exceeds previous works: 1,549,186 tracked symptoms from 183,732 users of a smartphone pregnancy app symptom tracker are analyzed. The majority of users track symptoms on a single day. These data are generalizable to those users who use the tracker for at least 5 months. Week-by-week symptom report data are presented for each symptom. "

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
ES Singer et al, NPJ Genomic Medicine, October 11, 2023

From the abstract: "We performed burden testing of rare splice-disrupting variants in people with inherited heart disease and sudden unexplained death compared to 125,748 population controls. ClinGen definitively disease-associated inherited heart disease genes were amplified using RNA extracted from fresh blood, derived cardiomyocytes, and myectomy tissue. Variants were functionally assessed and classified for pathogenicity. We found 88 in silico-predicted splice-disrupting variants in 128 out of 1242 (10.3%) unrelated participants. "

New AI Tools Must Have Health Equity in Their DNA
Y Hswen et al, JAMA October 11, 2023

From the abstract: "When it comes to the question around equity, I think the possibility of bias is enormous. The training sets—the way that we build these models and how we train them—if they’re built off of existing ways in which we work, existing ways in which our societies and our medical systems are structured, there’s a great risk of it introducing or perpetuating the biases that we’ve been experiencing as a system for generations now and in some ways for hundreds of years. We have to deliberately design that out of AI. That’s a really important part of how we’re going to succeed if we’re going to actually build AIs that are mindful of health equity in the future."


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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