diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype.

SUMMARY: The next-generation sequencing brought opportunities for the diagnosis of genetic disorders due to its high-throughput capabilities. However, the majority of existing methods were limited to only sequencing candidate variants, and the process of linking these variants to a diagnosis of genetic disorders still required medical professionals to consult databases. Therefore, we introduce diseaseGPS, an integrated platform for the diagnosis of genetic disorders that combines both phenotype and genotype data for analysis. It offers not only a user-friendly GUI web application for those without a programming background but also scripts that can be executed in batch mode for bioinformatics professionals. The genetic and phenotypic data are integrated using the ACMG-Bayes method and a novel phenotypic similarity method, to prioritize the results of genetic disorders. diseaseGPS was evaluated on 6085 cases from Deciphering Developmental Disorders project and 187 cases from Shanghai Children's hospital. The results demonstrated that diseaseGPS performed better than other commonly used methods. AVAILABILITY AND IMPLEMENTATION: diseaseGPS is available to freely accessed at https://diseasegps.sjtu.edu.cn with source code at https://github.com/BioHuangDY/diseaseGPS.

Association between Plasma Urotensin II and Risk of Hypertension: Findings from a Prospective Study.

Up to date, human urotensin II (UII) is the most potent vasoconstrictor in mammalian animals. To explore whether UII played an important role in the development of hypertension, we conducted a prospective study in Changshu city, China. The baseline investigation was carried out in 2007, and the first follow-up investigation was conducted in 2013. From the participants, we randomly obtained 2000 normotensive subjects aged 40 years and older without any severe disease at baseline and examined plasma UII and endothelin-1 (ET-1) with their blood samples at baseline. Logistic models were used to analyze the association between baseline UII, baseline ET-1, and newly occurring hypertension. In 1,819 subjects with complete data, 723 subjects developed into hypertensive in about five years. After adjusting some potential confounders, the odds ratio (95% confidence interval) for risk of hypertension comparing the highest with the lowest quartile of baseline UII was 0.888 (0.689-1.144). The role of UII in the development of hypertension was not found in the current study; therefore, further research studies should be conducted to explore the relationship between UII and hypertension.

Patient-related factors that influence coronary artery density in CCTA: a retrospective clinical study.

OBJECTIVES: The aim of this study was to investigate the relationship between various patient-related factors (physical and cardiac hemodynamic parameters) and the coronary artery density on coronary CT angiography (CCTA). METHODS: A total of 64 patients (female: male ratio, 24:40; age, 58.2 years±9.3, age range, 31-81 years; mean body weight, 65.3 kg±11.6, range 40-88 kg) were effectively enrolled in this approved retrospective study. Patient-related physical factors including height, body weight (BW), body mass index (BMI), systolic blood pressure (BPsys), diastolic blood pressure (BPdis) and blood pulse pressure (Bp) were recorded, measured and calculated prior to the administration of contrast media during the CCTA. Patient-related cardiac hemodynamic parameters, including heart rate (HR), myocardial mass (MM), cardiac output (CO), ejection fraction (EF), end-diastolic dimension (EDV), end-systolic volume (ESV) and stroke volume (SV), were analysed and recorded on the multimodality workplace (MMWP). The mean attenuation values of the left main artery (LMA) were measured and calculated. The correlation of the mean attenuation in the coronary arteries with the physical and hemodynamic parameters was evaluated. The correlations between the physical factors and hemodynamic parameters were also calculated. RESULTS: A significant negative linear correlation was found between the attenuation of the left main artery (LMA) and BW (P=.001), BMI (P=.006), CO (P=.008), EDV (P=.001) and MM (P<.001). Significant linear correlations were obtained between CO and HR (P<.001), EDV and BW (P=.001) and MM and BW (P<.001). CONCLUSION: Coronary artery attenuation depends on the patient's specific physical and cardiac function status.