scholarly journals Performance evaluation of three DNA sample tracking tools in a whole exome sequencing workflow

2022 ◽  
Author(s):  
Gertjan Wils ◽  
Celine Helmoortel ◽  
Pieter-Jan Volders ◽  
Inge Vereecke ◽  
Mauro Alessio Milazzo ◽  
...  
Keyword(s):  
Performance Evaluation ◽  
Building Blocks ◽  
Clinical Diagnostics ◽  
The Other ◽  
Sample Tracking ◽  
Whole Exome ◽  
The Right ◽  
The Cost ◽  
Target Rates ◽  
Generation Sequencing

Next-generation sequencing applications are becoming the building blocks for clinical diagnostics. These experiments require numerous wet- and drylab steps, each one increasing the probability of a sample swap and/or contamination. Therefore, an identity confirmation at the end of the process is required to ensure the right data is used for each patient. We tested three commercially available, SNP bases sample tracking kits in a diagnostic workflow to evaluate their performance. The coverage uniformity, on-target specificity, sample identification and genotyping performance were determined to measure the reliability and estimate the cost-effectiveness of each kit. Our findings showed that the kit from Swift did not perform up to standards as only 20 out of the 46 samples were correctly genotyped. The kit provided by Nimagen identified all but one sample and the kit from pxlence unambiguously identified all samples, making it the most reliable and robust kit of this evaluation. The kit from Nimagen showed poor on-target rates, resulting in deeper sequencing needs and higher sequencing costs compared to the other two kits.

scholarly journals Design of Multiple Mailboxes

2020 ◽  
Vol 318 ◽  
pp. 01041
Author(s):  
Athena Baronos ◽  
Odysseas Manoliadis ◽  
Aristeidis Pavlidis
Keyword(s):  
3D Visualization ◽  
Building Blocks ◽  
Design Stage ◽  
Extensive Literature ◽  
3D Design ◽  
3D Cad ◽  
Domestic Use ◽  
The Right ◽  
The Cost ◽  
Apartment Complexes

In today’s world the design of multiple mailboxes comes to cover the evolution of logistics in delivering mail where the postman is not required to visit every user. In this research the 3D visualization is used for the design of multiple mailboxes for domestic use. It concerns the design of mailboxes in ergonomic building blocks and apartment complexes in 3D design so that they can be easily manufactured. Between the advantages of this design will be rapid production of ready-made products production of prototypes that enables testing at the design stage and reduces the time and the cost of production. The design when done with 3D CAD can be manufactured with modern machine tooling methods. In this paper after an extensive Literature Review the postal multiple mailboxes is used as a case study in the use of 3D CAD for 3D printing. A methodology is proposed that enables the examination of prototypes at the design stage according to specifications and allows the manufacturing department of a company to prepare the right tools and begin installing production lines. Conclusively this method gives the advantage of designing the product and supporting the production of scaffolds that can be functionally and ergonomically tested before finalizing the production.

Unique Ethical Issues in Chemistry

2018 ◽  
Author(s):  
Jeffrey Kovac
Keyword(s):  
Ethical Issues ◽  
Human Life ◽  
Environmental Pollutants ◽  
Building Blocks ◽  
Natural Sciences ◽  
The Other ◽  
Past Century ◽  
Chemical Systems ◽  
Fundamental Knowledge ◽  
The Right

What makes chemistry unique? And how does this uniqueness reflect on chemistry’s unique concerns with ethics? As Roald Hoffmann (1995) argues, it is because chemistry is in the “tense middle,” occupying a space between several pairs of extremes. Perhaps most important, chemistry has always inhabited a frontier between science and technology, the pure and the applied, the theoretical and the practical (Bensaude-Vincent and Simon 2008). Unlike the other natural sciences, chemistry traces its origins both to philosophy and the craft tradition. Chemists are discoverers of knowledge and creators of new substances. The objects of study in chemistry, molecules and the macroscopic systems made up of molecules, are intermediate between the very small, the elementary particles, and the very large, the cosmos. Chemical systems are the right size to affect humans directly, for better or worse. They are the building blocks of biological organisms, they are the substances we eat and drink, they are the drugs that have improved human health dramatically over the past century, they comprise the materials we use to construct the products we use daily, but they are also the environmental pollutants that can plague our world. Chemicals can also be used as weapons. Being in the middle means that chemists face a unique set of ethical issues that I try to explicate in this chapter. These issues derive, in part, from the nature of chemistry as a science, a science that does not fit the neat picture drawn in the first chapter of textbooks. They also derive from the fact that ethics is an inquiry into right human conduct: What is a good life? Chemistry has perhaps contributed more to the betterment of human life than any other science, but at the same time has also contributed significantly to the deterioration of the environment. As explained in Chapter 3, much of chemistry is conducted in Pasteur’s quadrant, where both the search for fundamental knowledge and considerations of use are important. Chemical synthesis is perhaps the central activity of chemistry.

The Evaluation of Surface Quality for Particular Parts of Forging Die

2015 ◽  
Vol 818 ◽  
pp. 268-271
Author(s):  
Peter Ižol ◽  
Jozef Beňo
Keyword(s):  
Tool Wear ◽  
Production Process ◽  
Surface Quality ◽  
The Other ◽  
Connecting Rod ◽  
Production Effectiveness ◽  
The Right ◽  
The Cost ◽  
Forging Die ◽  
Selection Of

Forming dies are often costly for producers and the cost amount is influenced by production process too. If the die is manufactured by machining, proper strategies would necessary to consider as well. The right selection of adequate strategy helps production times shortening, tool wear reducing and those affect production effectiveness. Used strategies and its parameters are often compromise between acceptable surface quality and variations in shape aside, and production time on the other side. The paper presents the way of evaluation of milling strategy based on selected elements of forming die. This allows choosing the adequate strategy for particular shapes of die and also to evaluate them by the reached surface quality. Presented approach is verified by machining forging die cavity for production of connecting rod.

scholarly journals Ethics and international law: integrating the global justice project(s)

2013 ◽  
Vol 5 (1) ◽  
pp. 1-34 ◽  
Author(s):  
Steven Ratner
Keyword(s):  
International Law ◽  
Global Justice ◽  
Interdisciplinary Approach ◽  
World Order ◽  
The Other ◽  
Just World ◽  
Missed Opportunities ◽  
Legal Norms ◽  
The Right ◽  
The Cost

Academic discourse on global justice is at an all-time high. Within ethics and international law, scholars are undertaking new inquiries into age-old questions of building a just world order. Ethics – within political and moral philosophy – poses fundamental questions about responsibilities at the global level and produces a tightly reasoned set of frameworks regarding world order. International law, with its focus on legal norms and institutional arrangements, provides a path, as well as illuminates the obstacles, to implementing theories of the right or of the good. Yet despite the complementarity of these two projects, neither is drawing what it should from the other. The result is ethical scholarship that often avoids, or even misinterprets, the law; and law that marginalizes ethics even as it recognizes the importance of justice. The cost of this avoidance is a set of missed opportunities for both fields. This article seeks to help transform the limited dialogue between philosophers and international lawyers into a meaningful collaboration. Through a critical stocktaking of the contributions of the two disciplines, examining where they do and do not engage with the other, it offers an appraisal of the causes and costs of separation and an argument for an interdisciplinary approach.

scholarly journals Performance Evaluation of DLSARS Framework in Intelligent Product Recommendation Systems

2020 ◽  
pp. 165-175
Keyword(s):  
Performance Evaluation ◽  
Deep Learning ◽  
Recommendation System ◽  
The Other ◽  
Program Model ◽  
Learning Models ◽  
Technical Approach ◽  
Huge Number ◽  
Intelligent Product ◽  
The Right

The recommendation framework is vital tool for efficient E-commerce contacts between customers and retailers. Efficient and friendly contacts to find the right product have a huge effect on the sales results. In the basis of a technical approach, four of the program model guidelines are: collective filtering, content-based and demographic filtering. Collaborative filtering is considered superior to other methods in the list. Of necessity, in terms of fortuity, novelty and precision, it provides advantages. The DLSARS Framework is a deep learning-based sentiment analysis for the DLSARS recommendation system that uses deep learning models for a proposed system. The dataset selected for this research is synthetic dataset which consists of huge number of reviews for every product. The proposed models display superiorities and compare the findings with other existing models. The proposed DLSARS frame with bigram approach is superior to the other domain on the E-commerce domain.

The fundamentals of particle phonology

1984 ◽  
Vol 1 ◽  
pp. 129-155 ◽  
Author(s):  
Sanford A. Schane
Keyword(s):  
Internal Structure ◽  
Building Blocks ◽  
The Other ◽  
Distinctive Features ◽  
Standard Notation ◽  
Historical Processes ◽  
The Right ◽  
Notational System

Particle phonology has evolved from a dissatisfaction that I experienced working within the current theoretical and notational framework of generative phonology. I had been looking at historical processes affecting vowels and diphthongs. In trying to describe the kinds of changes undergone by these entities, I was particularly frustrated by the inability of the standard notation to characterise in any enlightening way the internal structure of vowels, as well as relationships evident between particular vowels and diphthongs. The first difficulty – the nature of the internal structure of vowels – was not simply due to an inadequate set of distinctive features. Rather, the problem resided in the very notion of features as autonomous building blocks out of which segments are composed. This view contributed partially to the other difficulty – the expression of relationships between vowels and diphthongs. An additional factor to this problem came from restrictions of the notation in regard what could appear to the left and to the right of an arrow. The notation forced me to formulate rules whose statements often did not accord with my conception of the nature of the processes. It seems to me that a highly-valued notational system should have the property that I have come to call ‘mirroring’. If one believes that a process or change happens in a certain way, then the notation should not just describe that event but should reflect as closely as possible its manner of occurrence.

Prices and Costs in the Textile Industry in the Light of the Lead Tags from Siscia

2017 ◽  
Author(s):  
Ivan Radman-Livaja
Keyword(s):  
Textile Industry ◽  
The Other ◽  
Personal Names ◽  
South West ◽  
Ancient City ◽  
The Right ◽  
The Cost

This chapter considers a collection of nearly 1,200 inscribed lead tags from the ancient city of Siscia (south-west Pannonia). Most of the tags were reused several times, showing traces of older inscriptions. On one side, one can read personal names, while the other side of the tag usually carries an inscription mentioning the merchandise, usually in an abbreviated form, as well as a price and often an indication of quantity or weight. Most if not all the tags are linked to the wool trade and the textile industry, the prices indicating the value of the goods or the cost of a given service such as cleaning, fulling, or dyeing. They appear to be labels used by fullers and dyers to ensure that they could easily return their property to the clients and charge them the right fee.

scholarly journals Intersubjectivity in Maria Stepanova's poetic cycle «Spolia»

2021 ◽  
Vol 1 (24) ◽  
pp. 52-57
Author(s):  
Alexei S. Bokarev ◽  
◽  
Yulia V. Tkachuk ◽  
Keyword(s):  
Speech Production ◽  
Point Of View ◽  
The Other ◽  
The World ◽  
The Subject ◽  
The Individual ◽  
The Right ◽  
The Cost ◽  
Modern Artists ◽  
The Relationship

The article considers M. Stepanova's cycle of poems «Spolia» (2015) from the point of view of the relationship between the author and the hero, whose outlooks are clearly getting closer at the non-classical stage of poetics development. The authors analyse the artistic strategy where «I», being the subject of the utterence, delegates the right to speak and/or the right to make judgements to the «other», «connecting» to the «other» for the sake of self-expression. Spolia is based on the complex of meanings connected with the author's consciousness, directed towards the author, but not autonomous in relation to the subject: replication (usually not marked graphically) and «alien» intention (understood as value expression directed at the protagonist) are the most popular forms of speech production in the cycle. The author's powers are thus limited to recording judgements addressed to the heroine and critically interpreting Stepanova's texts (the poet's works must be read as meta-lyrics), and to organizing the space for dialogue. The «voices» of both classical and modern artists (from A. Griboyedov and P. Tchaikovsky to Ven. Yerofeyev and G. Dashevsky) are included in the subjective sphere of «Spolia» as inseparable but not merging with the author's voice. When the purpose of the intertext comes down to expanding the boundaries of the personality, which is no longer understood as a «center», but as a «radius» of the artistic world, it is natural to disregard the individual biography of the writer. The poet's «passport» name, according to Stepanova, is a «synonym» for the epicenter of pain: unity with the world is only bought at the cost of suffering, which opens up to the author the possibility of «no-self-speaking», rare in poetry

Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

2020 ◽  
Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti
Keyword(s):  
Autosomal Recessive ◽  
Common Mechanism ◽  
Sequencing Analysis ◽  
Loss Of Function ◽  
Skin Atrophy ◽  
Whole Exome ◽  
Infancy And Childhood ◽  
Genetics And Genomics ◽  
New Feature ◽  
Generation Sequencing

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

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