Mol Genet Genomics
September 2025
Accurate variant calling is essential for next-generation sequencing (NGS)-based diagnosis of rare diseases, yet most benchmarking studies have focused on standard cell lines or trio-based samples, with limited relevance to sporadic cases. Here, we systematically compared the performance of DeepVariant and GATK HaplotypeCaller in two Chinese cohorts of patients with sporadic epilepsy (EP) and autism spectrum disorder (ASD). DeepVariant exhibited higher precision and sensitivity in detecting single nucleotide variants (SNVs), while GATK showed a distinct advantage in identifying rare variants, which are often key to understanding the genetic basis of rare diseases.
View Article and Find Full Text PDFMelatonin is a naturally occurring chemical with pleiotropic effects in various species. In plants, melatonin is associated with a variety of plant physiological processes, including plant growth and development, stress responses, etc. Thus, melatonin may hold promise for improving crop yields and agricultural sustainability.
View Article and Find Full Text PDFThis study was aimed at investigating the effects of myocardial infarction- (MI-) associated extracellular vesicle- (EV-) delivered miR-208b on human umbilical vein endothelial cells (HUVECs). EVs were isolated and subsequently stained with PHK67. A dual-luciferase reporter gene assay was used to determine the target of miR-208b.
View Article and Find Full Text PDFBackground It is unclear whether reversion from pre-diabetes mellitus to normoglycemia reduces cardiovascular disease (CVD) and all-cause mortality risk in a Chinese population. We aimed to fill this research gap. Methods and Results The current study included 14 231 Chinese participants (mean age, 58.
View Article and Find Full Text PDFBackground And Aims: Previous studies suggested that increased visit-to-visit variability in lipid measurements is associated with cardiovascular disease in specific or high-risk populations. Because it is unknown whether this notion applies to the general population, we investigated whether lipid variability has additive effects on the risk of all-cause mortality and myocardial infarction (MI) in the general population.
Methods: We identified 51,620 subjects from the Kailuan cohort who had no history of MI, stroke and cancer and who underwent ≥3 health examinations from 2006 to 2010.
Medicine (Baltimore)
September 2020
To examine the relationship between self-reported sleep duration and arterial stiffness in a large Chinese population from Kailuan.From July 2010 to December 2015, a total of 17,018 participants aged 18 to 98 years were enrolled after excluding those with a history of cerebrovascular events and coronary artery disease. Participants were divided into 5 categories according to self-reported night sleep duration: ≤5.
View Article and Find Full Text PDFBackground: Whether prediabetes alone or combined with hypertension is a more important risk factor for cardiovascular disease is controversial. In this study, we aimed to examine this association to fill the research gap.
Methods And Results: A total of 85 570 participants (mean age: 58.
Lipids Health Dis
August 2020
Background: To explore the associations between sleep duration and abnormalities in serum lipid levels in a Chinese population.
Methods: A prospective study was conducted with 34,260 participants from the general Chinese population. Sleep duration was categorized as ≤5, 6, 7, 8 or ≥ 9 h.
The immunological function of patients with malignant tumors may be suppressed during the perioperative period. However, details on the effects of transcutaneous electrical acupoint stimulation (TEAS) on immunological function are relatively lacking. We designed this study to examine the effects of TEAS on the immunological function of patients with non-small cell lung cancer (NSCLC) during the perioperative period.
View Article and Find Full Text PDFThe purpose was to study the association between sleep duration and the prevalence of anemia in Chinese people. There were 84,791 participants (men: 79.1%; women: 20.
View Article and Find Full Text PDFSuboptimal health status (SHS) is a physical state between health and illness, and previous studies suggested that SHS is associated with majority components of cardiovascular health metrics defined by American Heart Association (AHA). We investigated the association between SHS and cardiovascular health metrics in a cross-sectional analysis of China suboptimal health cohort study (COACS) consisting of 4313 participants (60.30% women) aged from 18 to 65 years old.
View Article and Find Full Text PDFThere is limited information on the relation between sleep duration and incident atrial fibrillation. We aimed to investigate this association in a Chinese population using cohort data from a study in Kailuan. The analysis included 87,693 participants (age range, 18-98 years) free of atrial fibrillation at the baseline survey.
View Article and Find Full Text PDFUsing a large longitudinal data set spanning 4 years, we examined whether a change in self-reported sleep duration is associated with metabolic syndrome (MetS). Current analysis included 15,753 participants who were free of MetS during both 2006-2007 and 2010-2011. Sleep duration was categorized into seven groups: ≤5.
View Article and Find Full Text PDFMedicine (Baltimore)
November 2016
Evidence suggests short or long sleep duration is associated with a higher risk of diabetes. Using a large longitudinal data set spanning 2 years, we examined whether a change in sleep duration is associated with diabetes.Current analysis included 56,588 participants who were free of diabetes during both 2006-2007 (exam1) and 2008-2009 (exam2).
View Article and Find Full Text PDFJ Am Heart Assoc
September 2016
Background: It is unclear whether ideal cardiovascular health (CVH), and particularly cumulative exposure to ideal CVH (cumCVH), is associated with incident diabetes. We aimed to fill this research gap.
Methods And Results: The Kailuan Study is a prospective cohort of 101 510 adults aged 18 to 98 years recruited in 2006-2007 and who were subsequently followed up at 2- (Exam 2), 4- (Exam 3), and 6 (Exam 4)-year intervals after baseline.
The objective of this study was to examine the relationship between sleep duration and ischemic and hemorrhagic stroke in a community-based cohort. The current analysis included 95,023 Chinese participants who were free of stroke at the baseline survey (2006-2007). Cox proportional hazards models were used to calculate hazard ratios (HRs) and their confidence intervals (CIs) for stroke, according to sleep duration.
View Article and Find Full Text PDFMedicine (Baltimore)
August 2016
The aim of the present study was to investigate the association between the altered ideal cardiovascular health status (ΔCHS) and the risk of developing diabetes mellitus in the Kailuan population of China.We included 50,656 Chinese adults aged 18 years or older (11,704 men and 38,952 women) without baseline diabetes mellitus in this study. Information about 7 individual components of the cardiovascular health metrics during 2006 to 2008 was collected.
View Article and Find Full Text PDFObjective: Although sleep is one of the most important health-related factors, the association of sleep duration with incidence of myocardial infarction or all-cause death has not been fully understood, especially in the general Chinese population. The objective of this study was to explore the relationship between sleep duration and risk of myocardial infarction and all-cause death in China.
Methods: Out of the 101,510 participants who were originally included into the Kailuan prospective cohort study and followed up for an average of 3.
Background: This study investigated associations between type 2 diabetes mellitus and non-traditional lipid measures (total cholesterol (TC)/high-density lipoprotein cholesterol (HDL-C), triglycerides (TG)/HDL-C, and non-HDL-C).
Methods: We conducted a community-based, cross-sectional study of 9 078 participants aged 18 years or older (4 768 men and 4 310 women) who lived in the Jidong community, Tangshan, China. The adjusted odds ratios for type 2 diabetes were calculated for every standard deviation change in TC, log-transformed TG, HDL-C, LDL-C, non-HDL-C, TC/HDL-C, and log-transformed TG/HDL-C using multivariate logistic regression analysis.
The study aimed to examine the association between ideal cardiovascular health (CVH) metrics and depression. We conducted a population-based, cross-sectional study of 6,851 participants aged 20 years or older (3,525 men and 3,326 women) living in Tangshan City, China. Information on the seven CVH metrics (including smoking, body mass index, dietary intake, physical activity, blood pressure, total cholesterol and fasting blood glucose) was collected via questionnaires, physical examination and laboratory test.
View Article and Find Full Text PDFNebivolol is a highly selective beta(1)-adrenoceptor blocker with additional vasodilatory properties, which may be due to an endothelial-dependent beta(3)-adrenergic activation of the endothelial nitric oxide synthase (eNOS). beta(3)-adrenergic eNOS activation has been described in human myocardium and is increased in human heart failure. Therefore, this study investigated whether nebivolol may induce an eNOS activation in cardiac tissue.
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