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Last Posted: Jan 21, 2025
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Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

From the abstract: "Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to assess whether machine learning algorithms outperform clinical diagnostic criteria (signs, history, and biomarkers) and the recommended screening criteria in the United Kingdom in identifying individuals with FH-causing variants, presenting a scalable screening criteria for general populations. "

Early adverse physiological event detection using commercial wearables: challenges and opportunities

From the abstract: " Data from commercial off-the-shelf (COTS) wearables leveraged with machine learning algorithms provide an unprecedented potential for the early detection of adverse physiological events. However, several challenges inhibit this potential, including (1) heterogeneity among and within participants that make scaling detection algorithms to a general population less precise, (2) confounders that lead to incorrect assumptions regarding a participant’s healthy state, (3) noise in the data at the sensor level that limits the sensitivity of detection algorithms, and (4) imprecision in self-reported labels that misrepresent the true data values associated with a given physiological event. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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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