scholarly journals Quantifying Influences on Intragenomic Mutation Rate

2020 ◽  
Vol 10 (8) ◽  
pp. 2641-2652
Author(s):  
Helmut Simon ◽  
Gavin Huttley

We report work to quantify the impact on the probability of human genome polymorphism both of recombination and of sequence context at different scales. We use population-based analyses of data on human genetic variants obtained from the public Ensembl database. For recombination, we calculate the variance due to recombination and the probability that a recombination event causes a mutation. We employ novel statistical procedures to take account of the spatial auto-correlation of recombination and mutation rates along the genome. Our results support the view that genomic diversity in recombination hotspots arises largely from a direct effect of recombination on mutation rather than predominantly from the effect of selective sweeps. We also use the statistic of variance due to context to compare the effect on the probability of polymorphism of contexts of various sizes. We find that when the 12 point mutations are considered separately, variance due to context increases significantly as we move from 3-mer to 5-mer and from 5-mer to 7-mer contexts. However, when all mutations are considered in aggregate, these differences are outweighed by the effect of interaction between the central base and its immediate neighbors. This interaction is itself dominated by the transition mutations, including, but not limited to, the CpG effect. We also demonstrate strand-asymmetry of contextual influence in intronic regions, which is hypothesized to be a result of transcription coupled DNA repair. We consider the extent to which the measures we have used can be used to meaningfully compare the relative magnitudes of the impact of recombination and context on mutation.

2020 ◽  
Author(s):  
Helmut Simon ◽  
Gavin Huttley

ABSTRACTWe report work to quantify the impact on the probability of human genome polymorphism both of recombination and of sequence context at different scales. We use population-based analyses of data on human genetic variants obtained from the public Ensembl database. For recombination, we calculate the variance due to recombination and the probability that a recombination event causes a mutation. We employ novel statistical procedures to take account of the spatial auto-correlation of recombination and mutation rates along the genome. Our results support the view that genomic diversity in recombination hotspots arises from a direct effect of recombination on mutation rather than from the effect of selective sweeps. We also use the statistic of variance due to context to compare the effect on the probability of polymorphism of contexts of various sizes. We find that when the 12 point mutations are considered separately, variance due to context increases significantly as we move from 3-mer to 5-mer and from 5-mer to 7-mer contexts. However, when all mutations are considered in aggregate, these differences are outweighed by the effect of interaction between the central base and its immediate neighbors. This interaction is itself dominated by the transition mutations, including, but not limited to, the CpG effect. We also demonstrate strand-asymmetry of contextual influence in intronic regions, which is hypothesized to be a result of transcription coupled DNA repair. We consider the extent to which the measures we have used can be used to meaningfully compare the relative magnitudes of the impact of recombination and context on mutation.


2017 ◽  
Vol 146 (1) ◽  
pp. 65-77 ◽  
Author(s):  
A. K. WINTER ◽  
S. PRAMANIK ◽  
J. LESSLER ◽  
M. FERRARI ◽  
B. T. GRENFELL ◽  
...  

SUMMARYRubella virus infection typically presents as a mild illness in children; however, infection during pregnancy may cause the birth of an infant with congenital rubella syndrome (CRS). As of February 2017, India began introducing rubella-containing vaccine (RCV) into the public-sector childhood vaccination programme. Low-level RCV coverage among children over several years can result in an increase in CRS incidence by increasing the average age of infection without sufficiently reducing rubella incidence. We evaluated the impact of RCV introduction on CRS incidence across India's heterogeneous demographic and epidemiological contexts. We used a deterministic age-structured model that reflects Indian states’ rural and urban area-specific demography and vaccination coverage levels to simulate rubella dynamics and estimate CRS incidence with and without RCV introduction to the public sector. Our analysis suggests that current low-level private-sector vaccination has already slightly increased the burden of CRS in India. We additionally found that the effect of public-sector RCV introduction depends on the basic reproductive number, R0, of rubella. If R0 is five, a value empirically estimated from an array of settings, CRS incidence post-RCV introduction will likely decrease. However, if R0 is seven or nine, some states may experience short-term or annual increases in CRS, even if a long-term total reduction in cases (30 years) is expected. Investment in population-based serological surveys and India's fever/rash surveillance system will be key to monitoring the success of the vaccination programme.


2021 ◽  
Vol 11 (11) ◽  
pp. 143-156
Author(s):  
Greta Kanownik

The article addresses an important issue regarding the impact of the coronavirus pandemic on the operation of hospitals and the use of management strategies at the present time and in reality after the pandemic. Based on the analysis performed, the article indicates four key areas that require immediate action to improve the functioning of the health care system and maintain the public health of the population. Based on the analysis of 9 crisis levers of the business model of A. Osterwalder, Y. Pigneur, four main areas requiring immediate intervention were identified, namely: development of medical personnel, development of computerization and digital competences, optimization of revenues and costs, identification of decision-making centers - appropriate division of tasks and responsibility. In these areas, the Polish health care system has failed, they require urgent strengthening and strategic long-term solutions, which will translate into optimization of activities aimed at securing the health of the society. It turns out that during the pandemic, it was not costs that turned out to be the biggest problem, but above all staff shortages, lack of access to health services, or equipment and organizational shortages. The time of the pandemic has shown that the researchers' theories that quality and not cost are the most important have proved successful. According to M.E. Porter and E. Teisberg, despite the limitations, the health care system can achieve excellent results in terms of both quality and effectiveness, which, however, often requires transformation and implementation of new competition rules aimed at increasing the value created.


2019 ◽  
pp. 109-123
Author(s):  
I. E. Limonov ◽  
M. V. Nesena

The purpose of this study is to evaluate the impact of public investment programs on the socio-economic development of territories. As a case, the federal target programs for the development of regions and investment programs of the financial development institution — Vnesheconombank, designed to solve the problems of regional development are considered. The impact of the public interventions were evaluated by the “difference in differences” method using Bayesian modeling. The results of the evaluation suggest the positive impact of federal target programs on the total factor productivity of regions and on innovation; and that regional investment programs of Vnesheconombank are improving the export activity. All of the investments considered are likely to have contributed to the reduction of unemployment, but their implementation has been accompanied by an increase in social inequality.


Author(s):  
EVA MOEHLECKE DE BASEGGIO ◽  
OLIVIA SCHNEIDER ◽  
TIBOR SZVIRCSEV TRESCH

The Swiss Armed Forces (SAF), as part of a democratic system, depends on legitimacy. Democracy, legitimacy and the public are closely connected. In the public sphere the SAF need to be visible; it is where they are controlled and legitimated by the citizens, as part of a deliberative discussion in which political decisions are communicatively negotiated. Considering this, the meaning of political communication, including the SAF’s communication, becomes obvious as it forms the most important basis for political legitimation processes. Social media provide a new way for the SAF to communicate and interact directly with the population. The SAF’s social media communication potentially brings it closer to the people and engages them in a dialogue. The SAF can become more transparent and social media communication may increase its reputation and legitimacy. To measure the effects of social media communication, a survey of the Swiss internet population was conducted. Based on this data, a structural equation model was defined, the effects of which substantiate the assumption that the SAF benefits from being on social media in terms of broadening its reach and increasing legitimacy values.


2012 ◽  
pp. 22-46
Author(s):  
Huong Nguyen Thi Lan ◽  
Toan Pham Ngoc

The purpose of this study is to evaluate the impact of public expenditure cuts on employment and income to support policies for the development of the labor mar- ket. Impact evaluation is of interest for policy makers as well as researchers. This paper presents a method – that is based on a Computable General Equilibrium model – to analyse the impact of the public expenditure cuts policy on employment and income in industries and occupations in Vietnam using macro data, the Input output table, 2006, 2008 and the 2010 Vietnam Household Living Standard Survey.


Author(s):  
OLEKSANDR STEGNII

The paper analyses specific features of sociological data circulation in a public space during an election campaign. The basic components of this kind of space with regard to sociological research are political actors (who put themselves up for the election), voters and agents. The latter refer to professional groups whose corporate interests are directly related to the impact on the election process. Sociologists can also be seen as agents of the electoral process when experts in the field of electoral sociology are becoming intermingled with manipulators without a proper professional background and publications in this field. In a public space where an electoral race is unfolding, empirical sociological research becomes the main form of obtaining sociological knowledge, and it is primarily conducted to measure approval ratings. Electoral research serves as an example of combining the theoretical and empirical components of sociological knowledge, as well as its professional and public dimensions. Provided that sociologists meet all the professional requirements, electoral research can be used as a good tool for evaluating the trustworthiness of results reflecting the people’s expression of will. Being producers of sociological knowledge, sociologists act in two different capacities during an election campaign: as analysts and as pollsters. Therefore, it is essential that the duties and areas of responsibility for professional sociologists should be separated from those of pollsters. Another thing that needs to be noted is the negative influence that political strategists exert on the trustworthiness of survey findings which are going to be released to the public. Using the case of approval ratings as an illustration, the author analyses the most common techniques aimed at misrepresenting and distorting sociological data in the public space. Particular attention is given to the markers that can detect bogus polling companies, systemic violations during the research process and data falsification.


2020 ◽  
Vol 23 (12) ◽  
pp. 1356-1382
Author(s):  
E.V. Olomskaya ◽  
A.A. Aksent'ev

Subject. This article discusses the methodological features of Russian Accounting Standard (PBU) 18/02 Income Tax Accounting when using the balance method to account for deferred taxes. It considers whether the clarification of permanent tax differences is justified, and it analyzes in detail the features of accounting for temporary differences and offers a visual and descriptive method for determining and correlating them in accounts. Objectives. The article aims to justify the reason for linking permanent tax differences to such accounting categories as Income and Expenses. It also aims to develop a methodological toolkit that simplifies the perception of the balance method and demonstrates the procedure for determining temporary differences. Methods. For the study, we used the methods of analysis, synthesis, observation, comparison, and other general scientific methods. Results. The article justifies the clarification of permanent differences from the position of accounting categories. It offers an original approach that helps visually classify temporary differences. The formalization of the balance method helped identify the logic of its reflection in accounting statements. Conclusions and Relevance. To ensure that accounting is not distorted due to the impact of taxation, it is necessary to develop a unified conceptual framework, as well as develop existing methods and introduce new ones that do not contradict the public concept of interaction between accounting and tax accounting. The research results are intended for training, scientific and practical activities of specialists in the field of accounting and audit, as well as students studying under this program, in order to study the features of applying the balance method for accounting for deferred taxes.


2020 ◽  
Vol 19 (4) ◽  
pp. 618-632
Author(s):  
A.S. Panchenko

Subject. The article addresses the public health in the Russian Federation and Israel. Objectives. The focus is on researching the state of public health in Russia and Israel, using the Global Burden of Disease (GBD) project methodology, identifying problem areas and searching for possible ways to improve the quality of health of the Russian population based on the experience of Israel. Methods. The study draws on the ideology of the GBD project, which is based on the Disability-Adjusted Life-Year (DALY) metric. Results. The paper reveals the main causes of DALY losses and important risk factors for cancer for Russia and Israel. The findings show that the total DALY losses for Russia exceed Israeli values. The same is true for cancer diseases. Conclusions. Activities in Israel aimed at improving the quality of public health, the effectiveness of which has been proven, can serve as practical recommendations for Russia. The method of analysis, using the ideology of the GBD project, can be used as a tool for quantitative and comparative assessment of the public health.


Author(s):  
Olena Pikaliuk ◽  
◽  
Dmitry Kovalenko ◽  

One of the main criteria for economic development is the size of the public debt and its dynamics. The article considers the impact of public debt on the financial security of Ukraine. The views of scientists on the essence of public debt and financial security of the state are substantiated. An analysis of the dynamics and structure of public debt of Ukraine for 2014-2019. It is proved that one of the main criteria for economic development is the size of public debt and its dynamics. State budget deficit, attracting and using loans to cover it have led to the formation and significant growth of public debt in Ukraine. The volume of public debt indicates an increase in the debt security of the state, which is a component of financial security. Therefore, the issue of the impact of public debt on the financial security of Ukraine is becoming increasingly relevant. The constant growth and large amounts of debt make it necessary to study it, which will have a positive impact on economic processes that will ensure the stability of the financial system and enhance its security.


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