scholarly journals Precision nomenclature for the new genomics

GigaScience ◽  
2019 ◽  
Vol 8 (8) ◽  
Author(s):  
Harris A Lewin ◽  
Jennifer A Marshall Graves ◽  
Oliver A Ryder ◽  
Alexander S Graphodatsky ◽  
Stephen J O'Brien

Abstract The confluence of two scientific disciplines may lead to nomenclature conflicts that require new terms while respecting historical definitions. This is the situation with the current state of cytology and genomics, which offer examples of distinct nomenclature and vocabularies that require reconciliation. In this article, we propose the new terms C-scaffold (for chromosome-scale assemblies of sequenced DNA fragments, commonly named scaffolds) and scaffotype (the resulting collection of C-scaffolds that represent an organism's genome). This nomenclature avoids conflict with the historical definitions of the terms chromosome (a microscopic body made of DNA and protein) and karyotype (the collection of images of all chromosomes of an organism or species). As large-scale sequencing projects progress, adoption of this nomenclature will assist end users to properly classify genome assemblies, thus facilitating genomic analysis.

2021 ◽  
Vol 12 ◽  
Author(s):  
Tyler D. Bechtel ◽  
John G. Gibbons

Listeria monocytogenes is the major causative agent of the foodborne illness listeriosis. Listeriosis presents as flu-like symptoms in healthy individuals, and can be fatal for children, elderly, pregnant women, and immunocompromised individuals. Estimates suggest that L. monocytogenes results in ∼1,600 illnesses and ∼260 deaths annually in the United States. L. monocytogenes can survive and persist in a variety of harsh environments, including conditions encountered in production of fermented dairy products such as cheese. For instance, microbial growth is often limited in soft cheese fermentation because of harsh pH, water content, and salt concentrations. However, L. monocytogenes has caused a number of deadly listeriosis outbreaks through the contamination of cheese. The purpose of this study was to understand if genetically distinct populations of L. monocytogenes are associated with particular foods, including cheese and dairy. To address this goal, we analyzed the population genetic structure of 504 L. monocytogenes strains isolated from food with publicly available genome assemblies. We identified 10 genetically distinct populations spanning L. monocytogenes lineages 1, II, and III and serotypes 1/2a, 1/2b, 1/2c, 4b, and 4c. We observed an overrepresentation of isolates from specific populations with cheese (population 2), fruit/vegetable (population 2), seafood (populations 5, 8 and 9) and meat (population 10). We used the Large Scale Blast Score Ratio pipeline and Roary to identify genes unique to population 1 and population 2 in comparison with all other populations, and screened for the presence of antimicrobial resistance genes and virulence genes across all isolates. We identified > 40 genes that were present at high frequency in population 1 and population 2 and absent in most other isolates. Many of these genes encoded for transcription factors, and cell surface anchored proteins. Additionally, we found that the virulence genes aut and ami were entirely or partially deleted in population 2. These results indicate that some L. monocytogenes populations may exhibit associations with particular foods, including cheese, and that gene content may contribute to this pattern.


Healthcare ◽  
2020 ◽  
Vol 8 (4) ◽  
pp. 578
Author(s):  
Dorota Ozga ◽  
Sabina Krupa ◽  
Paweł Witt ◽  
Wioletta Mędrzycka-Dąbrowska

It has become a standard measure in recent years to utilise evidence-based practice, which is associated with a greater need to implement and use advanced, reliable methods of summarising the achievements of various scientific disciplines, including such highly specialised approaches as personalised medicine. The aim of this paper was to discuss the current state of knowledge related to improvements in “nursing” involving management of delirium in intensive care units during the SARS-CoV-2 pandemic. This narrative review summarises the current knowledge concerning the challenges associated with assessment of delirium in patients with COVID-19 by ICU nurses, and the role and tasks in the personalised approach to patients with COVID-19.


Cells ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1030
Author(s):  
Julie Lake ◽  
Catherine S. Storm ◽  
Mary B. Makarious ◽  
Sara Bandres-Ciga

Neurodegenerative diseases are etiologically and clinically heterogeneous conditions, often reflecting a spectrum of disease rather than well-defined disorders. The underlying molecular complexity of these diseases has made the discovery and validation of useful biomarkers challenging. The search of characteristic genetic and transcriptomic indicators for preclinical disease diagnosis, prognosis, or subtyping is an area of ongoing effort and interest. The next generation of biomarker studies holds promise by implementing meaningful longitudinal and multi-modal approaches in large scale biobank and healthcare system scale datasets. This work will only be possible in an open science framework. This review summarizes the current state of genetic and transcriptomic biomarkers in Parkinson’s disease, Alzheimer’s disease, and amyotrophic lateral sclerosis, providing a comprehensive landscape of recent literature and future directions.


2020 ◽  
Vol 48 (1) ◽  
pp. 1-46
Author(s):  
Michael Bender ◽  
Marcus Müller

AbstractThis article contains a comparative study of heuristic textual practices in various scientific disciplines. By this we mean formulation practices with which new knowledge is generated in institutionally influenced routines and connected to existing knowledge, e. g. ‚highlighting the relevance of a research topic‘, ‚defining a concept‘ or ‚supporting a statement argumentatively‘.The aim is to find out to what extent such textual practices occur in different scientific disciplines, how they are distributed and combined. Furthermore, we study the effects domain-specific contexts have on heuristic textual practices. The data basis of our study is a corpus of 65 dissertations from the 13 different faculties of the TU Darmstadt. In the pilot study we report here, we examined the introductory chapters of the dissertations. Methodologically, it is an annotation study: Based on the current state of research on the subject, we have derived a basic annotation scheme, which we have developed and refined in a collaborative process of guideline creation. Our study affiliates on socio-pragmatic research on text production and formulation routines in the sciences. It is theoretically informed by the philosophy of science research on heuristics, methodically we make a contribution to the scientific debate on collaborative annotation procedures.


2021 ◽  
Vol 13 (22) ◽  
pp. 12379
Author(s):  
Raymond Kene ◽  
Thomas Olwal ◽  
Barend J. van Wyk

The future direction of electric vehicle (EV) transportation in relation to the energy demand for charging EVs needs a more sustainable roadmap, compared to the current reliance on the centralised electricity grid system. It is common knowledge that the current state of electricity grids in the biggest economies of the world today suffer a perennial problem of power losses; and were not designed for the uptake and integration of the growing number of large-scale EV charging power demands from the grids. To promote sustainable EV transportation, this study aims to review the current state of research and development around this field. This study is significant to the effect that it accomplishes four major objectives. (1) First, the implication of large-scale EV integration to the electricity grid is assessed by looking at the impact on the distribution network. (2) Secondly, it provides energy management strategies for optimizing plug-in EVs load demand on the electricity distribution network. (3) It provides a clear direction and an overview on sustainable EV charging infrastructure, which is highlighted as one of the key factors that enables the promotion and sustainability of the EV market and transportation sector, re-engineered to support the United Nations Climate Change Agenda. Finally, a conclusion is made with some policy recommendations provided for the promotion of the electric vehicle market and widespread adoption in any economy of the world.


2009 ◽  
Vol 3 (8) ◽  
pp. 336-348
Author(s):  
Xiaomin Ying ◽  
You Jung Kim ◽  
Yiqing Mao ◽  
Ming Liu ◽  
Yanyan Hou ◽  
...  

2021 ◽  
pp. 3-11
Author(s):  
Suddhasvatta Das ◽  
Kevin Gary

AbstractDue to the fast-paced nature of the software industry and the success of small agile projects, researchers and practitioners are interested in scaling agile processes to larger projects. Agile software development (ASD) has been growing in popularity for over two decades. With the success of small-scale agile transformation, organizations started to focus on scaling agile. There is a scarcity of literature in this field making it harder to find plausible evidence to identify the science behind large scale agile transformation. The objective of this paper is to present a better understanding of the current state of research in the field of scaled agile transformation and explore research gaps. This tertiary study identifies seven relevant peer reviewed studies and reports research findings and future research avenues.


1996 ◽  
Vol 25 (509) ◽  
Author(s):  
Henrik Bærbak Christensen

<p>This report describes the current state of my research in software development environments. I argue in favour of strong support for <em>project management, comprehension and navigation,</em> and <em>collaboration</em> primarily based on experiences from developing large-scale industrial-strength applications.</p><p>An underlying model of such an environment, named ``Ragnarok´´, is outlined. A design and first prototype of important parts of Ragnarok is described as well as some results from initial experiments.</p>


2021 ◽  
Vol 43 ◽  
pp. e58283
Author(s):  
Clístenes Williams Araújo do Nascimento ◽  
Caroline Miranda Biondi ◽  
Fernando Bruno Vieira da Silva ◽  
Luiz Henrique Vieira Lima

Soil contamination by metals threatens both the environment and human health and hence requires remedial actions. The conventional approach of removing polluted soils and replacing them with clean soils (excavation) is very costly for low-value sites and not feasible on a large scale. In this scenario, phytoremediation emerged as a promising cost-effective and environmentally-friendly technology to render metals less bioavailable (phytostabilization) or clean up metal-polluted soils (phytoextraction). Phytostabilization has demonstrable successes in mining sites and brownfields. On the other hand, phytoextraction still has few examples of successful applications. Either by using hyperaccumulating plants or high biomass plants induced to accumulate metals through chelator addition to the soil, major phytoextraction bottlenecks remain, mainly the extended time frame to remediation and lack of revenue from the land during the process. Due to these drawbacks, phytomanagement has been proposed to provide economic, environmental, and social benefits until the contaminated site returns to productive usage. Here, we review the evolution, promises, and limitations of these phytotechnologies. Despite the lack of commercial phytoextraction operations, there have been significant advances in understanding phytotechnologies' main constraints. Further investigation on new plant species, especially in the tropics, and soil amendments can potentially provide the basis to transform phytoextraction into an operational metal clean-up technology in the future. However, at the current state of the art, phytotechnology is moving the focus from remediation technologies to pollution attenuation and palliative cares.


Author(s):  
Nadège Guiglielmoni ◽  
Ramón Rivera-Vicéns ◽  
Romain Koszul ◽  
Jean-François Flot

Non-vertebrate species represent about ~95% of known metazoan (animal) diversity. They remain to this day relatively unexplored genetically, but understanding their genome structure and function is pivotal for expanding our current knowledge of evolution, ecology and biodiversity. Following the continuous improvements and decreasing costs of sequencing technologies, many genome assembly tools have been released, leading to a significant amount of genome projects being completed in recent years. In this review, we examine the current state of genome projects of non-vertebrate animal species. We present an overview of available sequencing technologies, assembly approaches, as well as pre and post-processing steps, genome assembly evaluation methods, and their application to non-vertebrate animal genomes.


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