Whole Genome Interpretation for a Family of Five.

Although best practices have emerged on how to analyse and interpret personal genomes, the utility of whole genome screening remains underdeveloped. A large amount of information can be gathered from various types of analyses via whole genome sequencing including pathogenicity screening, genetic risk scoring, fitness, nutrition, and pharmacogenomic analysis. We recognize different levels of confidence when assessing the validity of genetic markers and apply rigorous standards for evaluation of phenotype associations. We illustrate the application of this approach on a family of five. By applying analyses of whole genomes from different methodological perspectives, we are able to build a more comprehensive picture to assist decision making in preventative healthcare and well-being management. Our interpretation and reporting outputs provide input for a clinician to develop a healthcare plan for the individual, based on genetic and other healthcare data

Comparing post-editing difficulty of different machine translation errors in Spanish and German translations from English

Post-editing (PE) of Machine Translation (MT) is an increasingly popular way to integrate MT in the professional translation workflow, as it increases productivity and income. However, the quality of MT is not always good enough to blindly choose PE over translation from scratch. This article studies the PE of different error types and compares indicators of PE difficulty in English-to-Spanish and English-to-German translations. The results show that the indicators in question 1) do not correlate between each other for all error types, and 2) differ between languages

How to convince players in construction market? Strategies for effective implementation of circular economy in construction sector

Excessive and progressive industrialization is creating significant economic gaps, whereas large quantities of natural resources are used, and a lot of waste is created. Circular Economy (CE) aims to convert the so-called linear economy paradigm. Changes in legal regulations, business models, and construction methods are necessary for an effective CE implementation. This article aims to attract the attention of key players of the construction sector to a phenomenon of the CE. Basic conditions, a company should meet to perform an effective transformation towards the CE, were described. A hybrid, qualitative-quantitative methodology was used to research. First, a literature review is performed to describe a specificity of the construction industry and features of the construction companies in Poland. Second, a conceptual framework is developed to describe emerging CE business models. Third, a simulation-based analysis is developed to check a propensity of the construction companies to implement the CE and enhance its meaning in different types of economiesThis work was supported by the Statutory research for scientists at the UTP University of Science and Technology, Faculty of Civil and Environmental Engineering, and Architecture under Grant No. BSM-61/2018

Systematic identification of phenotypically enriched loci using a patient network of genomic disorders

Background Network medicine is a promising new discipline that combines systems biology approaches and network science to understand the complexity of pathological phenotypes. Given the growing availability of personalized genomic and phenotypic profiles, network models offer a robust integrative framework for the analysis of "omics" data, allowing the characterization of the molecular aetiology of pathological processes underpinning genetic diseases. Methods Here we make use of patient genomic data to exploit different network-based analyses to study genetic and phenotypic relationships between individuals. For this method, we analyzed a dataset of structural variants and phenotypes for 6,564 patients from the DECIPHER database, which encompasses one of the most comprehensive collections of pathogenic Copy Number Variations (CNVs) and their associated ontology-controlled phenotypes. We developed a computational strategy that identifies clusters of patients in a synthetic patient network according to their genetic overlap and phenotype enrichments. Results Many of these clusters of patients represent new genotype-phenotype associations, suggesting the identification of newly discovered phenotypically enriched loci (indicative of potential novel syndromes) that are currently absent from reference genomic disorder databases such as ClinVar, OMIM or DECIPHER itself. Conclusions We provide a high-resolution map of pathogenic phenotypes associated with their respective significant genomic regions and a new powerful tool for diagnosis of currently uncharacterized mutations leading to deleterious phenotypes and syndromes

A review on additive manufacturing and materials for catalytic applications: Milestones, key concepts, advances and perspectives

Catalysis, a driving force of the chemical industry is increasingly being influenced by additive manufacturing. The link between them is based on the need to intensify catalytic processes in order to make them more efficient and sustainable. Additive manufacturing can satisfy such a need, generating devices with an advanced design, easy production, and great adaptation, in addition to their catalytic functionality. The exponential growth of examples reported on the application of 3D-printing in catalysis has led to the need to compile and analyse these cases and thus establish, through this review, the most in-depth analysis done to date. The manuscript includes a brief background of the history of additive manufacturing and the classification of the different printing techniques. Subsequently, it identifies the intensification of processes, among other aspects, as the key for understanding the union of additive manufacturing and catalysis. Then, it explores in detail how such a combination occurs, establishing the most comprehensive classification to date between the two large groups of printable devices with catalytic properties. Finally, a series of perspectives are proposed in which the most probable courses of new advances in this field of research are identified.O.H. Laguna agradece a la Universidad de Jaén por el apoyo el contrato postdoctoral a través de la ‘‘Acción 6 del Plan de Apoyo a la Investigación de la Universidad de Jaén (2017-2019).

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. Despite the last advances in genomic sequencing and diagnosis, the pathological effects of many rare genetic variations remain unresolved, largely due to the low number of patients available for these cases, making it difficult to identify consistent patterns of genotype–phenotype relationships. We aimed to improve the identification of statistically consistent genotype–phenotype relationships by integrating all the genetic and clinical data of thousands of patients with rare genomic disorders (obtained from the DECIPHER database) into a phenotype–patient–genotype tripartite network. Then we assessed how our network approach could help in the characterization and diagnosis of novel cases in clinical genetics. The systematic approach implemented in this work is able to better define the relationships between phenotypes and specific loci, by exploiting large-scale association networks of phenotypes and genotypes in thousands of rare disease patients. The application of the described methodology facilitated the diagnosis of novel clinical cases, ranking phenotypes by locus specificity and reporting putative new clinical features that may suggest additional clinical follow-ups. In this work, the proof of concept developed over a set of novel clinical cases demonstrates that this network-based methodology might help improve the precision of patient clinical records and the characterization of rare syndromes

APPLaUD: access for patients and participants to individual level uninterpreted genomic data.

BACKGROUND: There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. MAIN BODY: We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data. Individuals have a legal right to access their genomic data in some countries and contexts. Moreover, increasing numbers of participatory research projects, direct-to-consumer genetic testing companies, and now major national sequencing initiatives grant individuals access to their genomic sequence data upon request. CONCLUSION: Drawing on current practice and regulatory analysis, we outline legal, ethical, and practical guidance for genomic sequencing initiatives seeking to offer interested patients and participants access to their raw genomic data

Evidence-Based Brief Psychological Treatment for Emotional Disorders in Primary and Specialized Care: Study Protocol of a Randomized Controlled Trial

Emotional Disorders (EDs) are very prevalent in Primary Care (PC). However, general practitioners (GPs) have difficulties to make the diagnosis and the treatment of this disorders that are usually treated with drugs. Brief psychological therapies may be a new option to treat EDs in a PC context. This article aims to present a study protocol to evaluate the effectiveness and the efficiency of an adaptation to brief format of the “Unified Protocol (UP) for the transdiagnostic treatment of EDs.” This is a single-blinded RCT among 165 patients with EDs. Patients will be randomly assigned to receive brief psychological treatment based on UP, conventional psychological treatment, conventional psychological treatment plus pharmacological treatment, minimum intervention based on basic psychoeducational information, or pharmacological treatment only. Outcome measure will be the following: GAD-7, STAI, PHQ-9, BDI-II, PHQ-15, PHQ-PD, and BSI-18. Assessments will be carried out by blinded raters at baseline, after the treatment and 6-month follow-up. The findings of this RCT may encourage the implementation of brief therapies in the PC context, what would lead to the decongestion of the public health system, the treatment of a greater number of people with EDs in a shorter time, the reduction of the side effects of pharmacological treatment and a possible economic savings for public purse.Clinical Trial Registration:ClinicalTrial.gov, identifier NCT03286881. Registered September 19, 2017

Chemical priming enhances plant tolerance to salt stress

Salt stress severely limits the productivity of crop plants worldwide and its detrimental effects are aggravated by climate change. Due to a significant world population growth, agriculture has expanded to marginal and salinized regions, which usually render low crop yield. In this context, finding methods and strategies to improve plant tolerance against salt stress is of utmost importance to fulfill food security challenges under the scenario of the ever-increasing human population. Plant priming, at different stages of plant development, such as seed or seedling, has gained significant attention for its marked implication in crop salt-stress management. It is a promising field relying on the applications of specific chemical agents which could effectively improve plant salt-stress tolerance. Currently, a variety of chemicals, both inorganic and organic, which can efficiently promote plant growth and crop yield are available in the market. This review summarizes our current knowledge of the promising roles of diverse molecules/compounds, such as hydrogen sulfide (HS), molecular hydrogen, nitric oxide (NO), hydrogen peroxide (HO), melatonin, chitosan, silicon, ascorbic acid (AsA), tocopherols, and trehalose (Tre) as potential primers that enhance the salinity tolerance of crop plants

Editorial: Recent insights into the double role of hydrogen peroxide in plants

Reactive oxygen species (ROS) of varied types can be yielded in plants at several primary sites (such as the chloroplast, mitochondria, and peroxisomes) under normal aerobic metabolism via processes including photosynthetic and respiratory electron transport chains. However, impaired oxidant-antioxidant balance and extreme growth conditions in plants are bound to cause increases in the cellular concentrations of radical and non-radical ROS such as superoxide anions (O2•−), hydroxyl radical (OH•), singlet oxygen (1O2), and hydrogen peroxide (H2O2). On the one hand, H2O2 has no unpaired electrons and is moderately reactive. Owing to its relative stability compared to other ROS and its capacity for diffusing through aquaporins in the membranes and over more considerable distances within the cell (Bienert et al., 2007), H2O2 acts as a stress signal transducer and contributes to numerous physiological functions in plants. On the other hand, H2O2 is a relatively long-lived molecule with a half-life of 1 ms, readily crosses biological membranes, and consequently can bring oxidative consequences far from the site of its formation (Neill et al., 2002; Sharma et al., 2012; Sehar et al., 2021). The Frontiers Research Topic “Recent Insights into the Double Role of Hydrogen Peroxide in Plants” highlighted the major mechanisms underlying the dual role of H2O2 in response to different abiotic stresses in plants. This Research Topic incorporated 19 publications, including 10 original research articles, 8 reviews, and one perspective article