Background Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn‐around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively assess the necessity of validating NGS variants. Methods Validation data of 7,601 NGS variants involving 1,045 genes were collected from 5,190 clinical samples and sequenced by one of five targeted capture panels and two NGS chemistries, respectively. These genes and variants were widely distributed in 24 human chromosomes and mitochondrial genome. Variants validation was firstly processed by Sanger sequencing. If validation results were unavailable or inconsistent with NGS calls, another validation test would be performed by mass spectrometry genotyping. Results A total of 6,939 high quality NGS variants with ≥35 × depth coverage and ≥35% heterozygous ratio were 100% confirmed by a secondary methodology. 5,775 heterozygous variants were separated from 760 homozygous variants and 404 hemizygous variants by 80% heterozygous ratio. A total of 1.5% (98/6,939) of NGS variants were validated by mass spectrometry genotyping. Conclusion Considering of the above comprehensive assessment, a new variant with high quality from a well‐validated capture‐based NGS workflow can be reported directly without validation.
Urban ecosystem health evaluation can assist in sustainable ecological management at a regional level. This study examined urban agglomeration ecosystem health in the middle reaches of the Yangtze River with entropy weight and extension theories. The model overcomes information omissions and subjectivity problems in the evaluation process of urban ecosystem health. Results showed that human capital and education, economic development level as well as urban infrastructure have a significant effect on the health states of urban agglomerations. The health status of the urban agglomeration's ecosystem was not optimistic in 2013. The majority of the cities were unhealthy or verging on unhealthy, accounting for 64.52% of the total number of cities in the urban agglomeration. The regional differences of the 31 cities' ecosystem health are significant. The cause originated from an imbalance in economic development and the policy guidance of city development. It is necessary to speed up the integration process to promote coordinated regional development. The present study will aid us in understanding and advancing the health situation of the urban ecosystem in the middle reaches of the Yangtze River and will provide an efficient urban ecosystem health evaluation method that can be used in other areas.
Abstract:This study is about setting a policy model including the factors of income, education and equality to result in a set of policy recommendations which would be implemented to the Population Zero. The mission of Population Zero is to create a sustainable society by maximizing both economic output and happiness in the work place for its citizens. Our policy recommendations contain these aspects: influence factors of GDP and happiness.[1] We established a Linear programming model so as to find the best result of the double guided balance. Firstly, we set the GDP Regression function including the factors of income, the labor force population invested in GDP growth, the temporal welfare of the population, the individual characteristics of the labor force, the education-related infrastructure invested in GDP growth and the total amount of current assets used to raise the skill level of the population. At the same time, we set the happiness Regression function including the factors of GDP, Gini coefficient, social welfare, income, individual characteristic. And we use the Z-score method to normalize the data, the dual objective function criterion is transformed into a single objective function, so the objective function of GDP and happiness double objective equilibrium could be established next, and define it as GDP-Happiness Mission index. We can use this index to reflect the degree of completion of Population Zero.
Abstract. The main causes of low fertility rates analyzed,which are heavy economic burdens as well as stress to families, and there is no corresponding family social security system. We compared with the existing fertility system in China and the family social security system in Western developed countries, and translated the official data on the birth rate of newborns since the implementation of the Two-child policy in China, in order to propose and improve Chinese family social security system.
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