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Hot Topics of the Day|PHGKB
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07/13/2022

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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‘Diagnostic shock’: the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning
HB Smart et al, EJHG, July 13, 2022

Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delivering genomic results in an acute care setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid genomic diagnosis program.

Automated sequence-based annotation and interpretation of the human genome.
Kundaje Anshul et al. Nature genetics 2022 7

A machine-learning model produces summarized sequence representations of genomic regulatory activity, and provides a functional view of regulatory DNA variation in the human genome, with the aim of better understanding the role of sequence variation in health and disease.

Machine learning-based quantitative prediction of drug exposure in drug-drug interactions using drug label information
HY Jang et al, NPJ Digital Medicine, July 11, 2022

Many machine learning techniques provide a simple prediction for drug-drug interactions (DDIs). However, a systematically constructed database with pharmacokinetic (PK) DDI information does not exist, nor is there a machine learning model that numerically predicts PK fold change (FC) with it. Therefore, we propose a PK DDI prediction (PK-DDIP) model for quantitative DDI prediction with high accuracy, while constructing a highly reliable PK-DDI database.

Multi-center validation of machine learning model for preoperative prediction of postoperative mortality
SW Lee et al, NPJ Digital Medicine, July 12, 2022

This study aimed to create a machine-learning prediction model for 30-day mortality after a non-cardiac surgery that adapts to the manageable amount of clinical information as input features and is validated against multi-centered rather than single-centered data. Data were collected from 454,404 patients over 18 years of age who underwent non-cardiac surgeries from four independent institutions.

Integrating digital pathology and mathematical modelling to predict spatial biomarker dynamics in cancer immunotherapy
LG Hutchinson et al, NPJ Digital Medicine, July 12, 2022

In oncology clinical trials, on-treatment biopsy samples are taken to confirm the mode of action of new molecules, among other reasons. Yet, the time point of sample collection is typically scheduled according to 'Expert Best Guess'. We have developed an approach integrating digital pathology and mathematical modelling to provide clinical teams with quantitative information to support this decision.

Protection of SARS-CoV-2 natural infection against reinfection with the BA.4 or BA.5 Omicron subvariants
HN Atarawneh et al, MEDRXIV, July 12, 2022

A RT-qPCR system using a degenerate probe for specific identification and differentiation of SARS-CoV-2 Omicron (B.1.1.529) Variants of Concern
R Jessen et al, MEDRXIV, July 12, 2022

Use of illness severity scores to predict mortality in interstitial lung disease patients hospitalised with acute respiratory deterioration
RL WIlliams et al, MEDRXIV, July 12, 2022

Microbubbles for improved nucleic acid extraction in wastewater samples for viral RNA detection
CJ Wegner et al, MEDRXIV, July 12, 2022

Multi-omics provide evidence for an anti-inflammatory immune signature and metabolic alterations in patients with Long COVID Syndrome; an exploratory study
JJ Kovarik et al, MEDRXIV, July 12, 2022

Estimation of disease burden and clinical severity of COVID-19 caused by Omicron BA.2 in Shanghai, February-June 2022
X Chen et al, MEDRXIV, July 12, 2022


Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics 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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