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Updated: Jun 28, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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一个机器学习算法使用索赔数据来识别患有同卵性家族高胆固醇血症的患者

Jing Gu1, Matthew Epland2, Xinshuo Ma2

  • 1Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, New York, NY, 10591, USA.

Scientific reports
|April 17, 2024
PubMed
概括

一个机器学习模型有效地识别了使用医疗保健索赔数据的同卵性家族高胆固醇血症 (HoFH) 患者. 这种工具有助于诊断这种极为罕见的疾病,改善患者的识别和治疗.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
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