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The work is devoted to the problem of water purification during the flowering of phytoplankton, as well as during salvo pollution by industrial effluents. Anthropogenic load significantly reduc-es the efficiency of purification according to the current technology, therefore, additional post-treatment methods must be used to obtain purified water of the required quality. The purpose of this article is to substantiate the choice of a sorbent within the framework of the considered wa-ter treatment technology, as well as to determine the optimal effective dosage of its dosing. This goal is achieved by implementing the following tasks: analysis of powdered sorption materials used in water treatment technology, selection of an effective dose and entry point of the selected sorption material based on experimental studies, analysis of the results obtained; and develop-ment of technical solutions for the organization of a hybrid purification plant. The most im-portant results are: determination of the optimal dose of coal pulp and the frequency of dosing to maintain the required quality of purified water; and determination of key water quality indica-tors affected by treatment with activated carbon. The achievement of these results made it pos-sible to determine the main technological features of the water purification method and deter-mine the possibility of combining it with other purification technologies. The significance of the results obtained lies in the fact that new technical solutions have been proposed to improve the efficiency of water treatment facilities during a period of drastic changes in water quality at a water source.

The concept of ubiquitous learning has emerged as a pedagogical approach in response to the advancements made in mobile, wireless communication, and sensing technologies. The domain of ubiquitous learning is distinguished by swift progression, thereby presenting a difficulty in maintaining current knowledge of its developments. The implementation of bibliometric analysis would enable the tracking of its development and current status. The objective of the present investigation is to perform a thorough bibliometric examination of the domain of ubiquitous learning. This research aims to discern significant attributes, patterns, and influencers within the discipline by analyzing scholarly works. The primary objective of this study is to provide a comprehensive depiction of the salient characteristics and patterns exhibited by the datasets employed in ubiquitous learning research, namely Scopus, Web of Science (WoS), and merged datasets. Additionally, the study seeks to trace the historical development of publications in this domain and to ascertain the most noteworthy publications and authors that have exerted a significant impact on this field. This study provides an extensive bibliometric analysis of ubiquitous learning, examining output from Scopus, WoS, and a merged dataset. It highlights the field's growth and the rising use of diverse data sources, with Scopus and the merged dataset revealing broader insights. The analysis reveals an interest peak in 2016 and a subsequent decline likely due to incomplete recent data. Documents, predominantly articles, differ across databases, underscoring the unique contributions of each. The study identifies "Lecture Notes in Computer Science" and "Ubiquitous Learning" as major research sources. It recognizes Hwang, G.-J. as a highly influential author, with Asian institutions leading in research output. However, Western institutions also show strong representation in WoS and merged databases. Despite variations in total citation counts, countries like China, Switzerland, and Ireland contribute significantly to the field. Terms like "mobile learning" and "life log" have vital roles in bridging research clusters, while thematic maps reveal evolving trends like mobile learning and learning analytics. The collaborative structure and key figures in ubiquitous learning are illuminated through network analysis, emphasizing the importance of cross-database analysis for a comprehensive view of the field.

Concerns about the potential neurotoxic effects of anesthetics on developing brain exist. When making clinical decisions, the timing and dosage of anesthetic exposure are critical factors to consider due to their associated risks. In our study, we investigated the impact of repeated anesthetic exposures on the brain development trajectory of a cohort of rhesus monkeys (n = 26) over their first 2 yr of life, utilizing longitudinal magnetic resonance imaging data. We hypothesized that early or high-dose anesthesia exposure could negatively influence structural brain development. By employing the generalized additive mixed model, we traced the longitudinal trajectories of brain volume, cortical thickness, and white matter integrity. The interaction analysis revealed that age and cumulative anesthetic dose were variably linked to white matter integrity but not to morphometric measures. Early high-dose exposure was associated with increased mean, axial, and radial diffusivities across all white matter regions, compared to late-low-dose exposure. Our findings indicate that early or high-dose anesthesia exposure during infancy disrupts structural brain development in rhesus monkeys. Consequently, the timing of elective surgeries and procedures that require anesthesia for children and pregnant women should be strategically planned to account for the cumulative dose of volatile anesthetics, aiming to minimize the potential risks to brain development.

The article presents the results of the study of the value structure of 6-7 years old children. The relevance of the study is caused by the role that childhood has on subsequent human development. The basic values that determine human development are formed at the age of 7 years. However, the study of the value sphere of children presents a number of difficulties - the limited methods and techniques that allow us to explore the value sphere of children, the closeness of the family for scientific research, the insufficient social experience of the child himself, differences in the level of communicative development of children and a number of other difficulties and restrictions. At the same time, the use of various research methods - projective, standardized, observations provides empirical data on the structure of values of 6-7 years old children. Both projective and standardized techniques were used in the study. The results show that the development of the value sphere in children 6-7 occurs very unevenly: from complete amorphism to the presence of a clear hierarchical structure. There are confirmed differences in the structure of preferred values among boys and girls. Girls aged 6-7 choose values related to the communicative sphere, while boys of this age are guided by values that are active character.

АnnotationTechnological installation of waste water disposalafter washing of H-cation filters is quite promising idea of avoiding penalties and reuse of waste water in cycle of thermal power plants (TPP). The development of this unit is based on reactions that occur when mixing several TPP water treatment plant wastes, namely, neutralization and exchange-type reactions. As neutralizing reagent, the sludge of the water treatment plant is used, which consists of CaCO3 by 80%. This method reduces the concentration of sul-phate-containing components in wastewater to a standard level, and also provides neutral wastewater with-out the use of additional purchase reagents.

Maternal infection has emerged as an important environmental risk factor for neurodevelopmental disorders, including schizophrenia and autism spectrum disorders. Animal model systems of maternal immune activation (MIA) suggest that the maternal immune response plays a significant role in the offspring's neurodevelopment and behavioral outcomes. Extracellular free water is a measure of freely diffusing water in the brain that may be associated with neuroinflammation and impacted by MIA. The present study evaluates the brain diffusion characteristics of male rhesus monkeys (Macaca mulatta) born to MIA-exposed dams (n = 14) treated with a modified form of the viral mimic polyinosinic:polycytidylic acid at the end of the first trimester. Control dams received saline injections at the end of the first trimester (n = 10) or were untreated (n = 4). Offspring underwent diffusion MRI scans at 6, 12, 24, 36, and 45 months. Offspring born to MIA-exposed dams showed significantly increased extracellular free water in cingulate cortex gray matter starting as early as 6 months of age and persisting through 45 months. In addition, offspring gray matter free water in this region was significantly correlated with the magnitude of the maternal IL-6 response in the MIA-exposed dams. Significant correlations between brain volume and extracellular free water in the MIA-exposed offspring also indicate converging, multimodal evidence of the impact of MIA on brain development. These findings provide strong evidence for the construct validity of the nonhuman primate MIA model as a system of relevance for investigating the pathophysiology of human neurodevelopmental psychiatric disorders. Elevated free water in individuals exposed to immune activation in utero could represent an early marker of a perturbed or vulnerable neurodevelopmental trajectory.

BackgroundEpidemiological studies suggest that maternal immune activation (MIA) is a significant risk factor for future neurodevelopmental disorders, including schizophrenia (SZ), in offspring. Consistent with findings in SZ research and work in rodent systems, preliminary cross-sectional findings in nonhuman primates suggest that MIA is associated with dopaminergic hyperfunction in young adult offspring.MethodsIn this unique prospective longitudinal study, we used [18F]fluoro-l-m-tyrosine positron emission tomography to examine the developmental time course of striatal presynaptic dopamine synthesis in male rhesus monkeys born to dams (n = 13) injected with a modified form of the inflammatory viral mimic, polyinosinic:polycytidylic acid [poly(I:C)], in the late first trimester. Striatal (caudate, putamen, and nucleus accumbens) dopamine from these animals was compared with that of control offspring born to dams that received saline (n = 10) or no injection (n = 4). Dopamine was measured at 15, 26, 38, and 48 months of age. Prior work with this cohort found decreased prefrontal gray matter volume in MIA offspring versus controls between 6 and 45 months of age. Based on theories of the etiology and development of SZ-related pathology, we hypothesized that there would be a delayed (relative to the gray matter decrease) increase in striatal fluoro-l-m-tyrosine signal in the MIA group versus controls.Results[18F]fluoro-l-m-tyrosine signal showed developmental increases in both groups in the caudate and putamen. Group comparisons revealed significantly greater caudate dopaminergic signal in the MIA group at 26 months.ConclusionsThese findings are highly relevant to the known pathophysiology of SZ and highlight the translational relevance of the MIA model in understanding mechanisms by which MIA during pregnancy increases risk for later illness in offspring.

Understanding how genetic variants impact molecular phenotypes is a key goal of functional genomics, currently hindered by reliance on a single haploid reference genome. Here, we present the EN-TEx resource of 1,635 open-access datasets from four donors (∼30 tissues × ∼15 assays). The datasets are mapped to matched, diploid genomes with long-read phasing and structural variants, instantiating a catalog of >1 million allele-specific loci. These loci exhibit coordinated activity along haplotypes and are less conserved than corresponding, non-allele-specific ones. Surprisingly, a deep-learning transformer model can predict the allele-specific activity based only on local nucleotide-sequence context, highlighting the importance of transcription-factor-binding motifs particularly sensitive to variants. Furthermore, combining EN-TEx with existing genome annotations reveals strong associations between allele-specific and GWAS loci. It also enables models for transferring known eQTLs to difficult-to-profile tissues (e.g., from skin to heart). Overall, EN-TEx provides rich data and generalizable models for more accurate personal functional genomics.

The purpose of the study is to identify the characteristics of implementation of remote access to learning at university basing on distance learning technology. The basic methods for the relevant problem studying are pedagogical experiment, expert assessment methods, and statistical processing of quantitative results of the research. The experiment involves the students and professors of the Ammosov North-Eastern Federal University (NEFU), the Herzen State Pedagogical University of Russia (RSPU) and Chelyabinsk State University (CSU). The promising areas of distance learning and its effectiveness have been analyzed and generalized. In addition, factors and conditions for providing quick access to the Internet for the educational process have been identified. The substantive aspect of the implementation of remote access to learning in terms of the Major Professional Educational Programs (MPEP) in the field of Pedagogical Education is examined in order to identify their relevance to the distance learning implementation at university. The most widespread digital services have been studied in addition to their effectiveness for the development of training materials that provide educational opportunities of distance learning in terms of the implementation of remote access to learning. The significance of the implementation of distance remote learning for future teachers training at universities is determined. The results of the study prove the necessity to develop educational and methodological materials for the implementation of new form of training in NEFU, RSPU and CSU.

In the modern world of education, the level of digital technology development plays a decisive role in the competitiveness of educational institutions. The transition to digital education is considered a key driving force for the development of any university. In recent years, pedagogical universities have made tangible progress in many areas of digital development. However, the introduction of digital technologies (DT) in the educational process reached its peak during the pandemic. This study aims to identify the distinctive features in the work of a teacher at a pedagogical university during the pandemic. The study revealed the following: the doubts of the teachers with no e-learning experience; didactically effective digital technologies in the educational process, the combined use of which ensures the synergistic effectiveness of e-learning; students' attitude towards the quality of the e-learning process during the pandemic. Given the identified problems and positive aspects, the results of the study can be used to further develop a strategy for the digitalization of teacher education. The study proved that effective digitalization of the educational process is possible under the condition of cooperative and systematic work of all participants.

At present, teaching programming to future teachers is superficial or is excluded from computer science curricular. Only programming fundamentals are taught during computer studies, and skills acquired during the training are not applied in practice. The aims of this article are (1) to develop a programming course for teacher training disciplines that are taught in training units of the Ammosov North-Eastern Federal University (NEFU), and (2) give recommendations to apply features of the programming language Python in the professional activities of future teachers. This work applies the iterative methodological approach to undertake the study in various groups of students of NEFU from 2016 to 2019. Quantitative and objective indicators are used. Results show which modules of Python are the most appropriate for students to study for their future professional teaching activities. The training course "Use of the language Python by future teachers" is developed, and will be taught in all training units of the university, that have teacher training disciplines. The article determines a direction of future research related to teaching programming, which is important for all computer studies.

Teacher training can assist in initiating digital changes in education. However, to achieve this, the training should use leading examples from the field of digital education solutions and technologies, while university and school educators should be trained to apply them in their work and to create high-tech educational startups in the field of e-learning. The goal of this study was to increase the professional competencies of teachers by conducting a corporate course that would prepare the teachers of the university in Yakutia to apply e-learning methods. The article demonstrates that the introduction of e-learning at the university is an important comprehensive process that implies transformation of all education components under the influence of modern technologies. Its practical implementation requires changing the goals, organizational forms, and technologies of educational activities in line with new technologies as well as the development of productive strategies for integrating the created innovations into the traditional learning process. For this purpose, the authors conducted a sociological study that helped identify the main problems associated with this type of training (for example, developing a course is time-consuming and a lack of required skills to develop courses). Based on the obtained data, the authors proposed a corporate course for university teachers on the creation of educational content for e-learning. It was shown that when applying new types of educational activities, teachers should combine traditional and new technologies, which contributes to the innovative training of teachers to meet the requirements of the digital society. This study focused on practical issues, since the research results were implemented in the work of the North-Eastern Federal University (NEFU), the base of the research. The results can be used when training teachers to apply e-learning methods in other educational institutions.

Human epidemiological studies implicate exposure to infection during gestation in the etiology of neurodevelopmental disorders. Animal models of maternal immune activation (MIA) have identified the maternal immune response as the critical link between maternal infection and aberrant offspring brain and behavior development. Here we evaluate neurodevelopment of male rhesus monkeys (Macaca mulatta) born to MIA-treated dams (n = 14) injected with a modified form of the viral mimic polyinosinic:polycytidylic acid at the end of the first trimester. Control dams received saline injections at the same gestational time points (n = 10) or were untreated (n = 4). MIA-treated dams exhibited a strong immune response as indexed by transient increases in sickness behavior, temperature, and inflammatory cytokines. Although offspring born to control or MIA-treated dams did not differ on measures of physical growth and early developmental milestones, the MIA-treated animals exhibited subtle changes in cognitive development and deviated from species-typical brain growth trajectories. Longitudinal MRI revealed significant gray matter volume reductions in the prefrontal and frontal cortices of MIA-treated offspring at 6 months that persisted through the final time point at 45 months along with smaller frontal white matter volumes in MIA-treated animals at 36 and 45 months. These findings provide the first evidence of early postnatal changes in brain development in MIA-exposed nonhuman primates and establish a translationally relevant model system to explore the neurodevelopmental trajectory of risk associated with prenatal immune challenge from birth through late adolescence.SIGNIFICANCE STATEMENT Women exposed to infection during pregnancy have an increased risk of giving birth to a child who will later be diagnosed with a neurodevelopmental disorder. Preclinical maternal immune activation (MIA) models have demonstrated that the effects of maternal infection on fetal brain development are mediated by maternal immune response. Since the majority of MIA models are conducted in rodents, the nonhuman primate provides a unique system to evaluate the MIA hypothesis in a species closely related to humans. Here we report the first longitudinal study conducted in a nonhuman primate MIA model. MIA-exposed offspring demonstrate subtle changes in cognitive development paired with marked reductions in frontal gray and white matter, further supporting the association between prenatal immune challenge and alterations in offspring neurodevelopment.

Abstract Background To identify as many different transcripts/genes in the Atlantic salmon genome as possible, it is crucial to acquire good cDNA libraries from different tissues and developmental stages, their relevant sequences (ESTs or full length sequences) and attempt to predict function. Such libraries allow identification of a large number of different transcripts and can provide valuable information on genes expressed in a particular tissue at a specific developmental stage. This data is important in constructing a microarray chip, identifying SNPs in coding regions, and for future identification of genes in the whole genome sequence. An important factor that determines the usefulness of generated data for biologists is efficient data access. Public searchable databases play a crucial role in providing such service. Description Twenty-three Atlantic salmon cDNA libraries were constructed from 15 tissues, yielding nearly 155,000 clones. From these libraries 58,109 ESTs were generated, of which 57,212 were used for contig assembly. Following deletion of mitochondrial sequences 55,118 EST sequences were submitted to GenBank. In all, 20,019 unique sequences, consisting of 6,424 contigs and 13,595 singlets, were generated. The Norwegian Salmon Genome Project Database has been constructed and annotation performed by the annotation transfer approach. Annotation was successful for 50.3% (10,075) of the sequences and 6,113 sequences (30.5%) were annotated with Gene Ontology terms for molecular function, biological process and cellular component. Conclusion We describe the construction of cDNA libraries from juvenile/pre-smolt Atlantic salmon (Salmo salar), EST sequencing, clustering, and annotation by assigning putative function to the transcripts. These sequences represents 97% of all sequences submitted to GenBank from the pre-smoltification stage. The data has been grouped into datasets according to its source and type of annotation. Various data query options are offered including searches on function assignments and Gene Ontology terms. Data delivery options include summaries for the datasets and their annotations, detailed self-explanatory annotations, and access to the original BLAST results and Gene Ontology annotation trees. Potential presence of a relatively high number of immune-related genes in the dataset was shown by annotation searches.

Abstract Background Trace or chromatogram files (raw data) are produced by automatic nucleic acid sequencing equipment or sequencers. Each file contains information which can be interpreted by specialised software to reveal the sequence (base calling). This is done by the sequencer proprietary software or publicly available programs. Depending on the size of a sequencing project the number of trace files can vary from just a few to thousands of files. Sequencing quality assessment on various criteria is important at the stage preceding clustering and contig assembly. Two major publicly available packages – Phred and Staden are used by preAssemble to perform sequence quality processing. Results The preAssemble pre-assembly sequence processing pipeline has been developed for small to large scale automatic processing of DNA sequencer chromatogram (trace) data. The Staden Package Pregap4 module and base-calling program Phred are utilized in the pipeline, which produces detailed and self-explanatory output that can be displayed with a web browser. preAssemble can be used successfully with very little previous experience, however options for parameter tuning are provided for advanced users. preAssemble runs under UNIX and LINUX operating systems. It is available for downloading and will run as stand-alone software. It can also be accessed on the Norwegian Salmon Genome Project web site where preAssemble jobs can be run on the project server. Conclusion preAssemble is a tool allowing to perform quality assessment of sequences generated by automatic sequencing equipment. preAssemble is flexible since both interactive jobs on the preAssemble server and the stand alone downloadable version are available. Virtually no previous experience is necessary to run a default preAssemble job, on the other hand options for parameter tuning are provided. Consequently preAssemble can be used as efficiently for just several trace files as for large scale sequence processing.

The paper deals with the evaluation of specialists' professional training quality within the framework of intersectoral, transborder, public and private models of social partnership described in theories by foreign and Russian scientists. Special attention is paid to providing methodological grounds for cooperation between the total subjects within the vocational education system. The procedure of studying the Russian employers' ideas about the high-quality training for specialists relies on an innovation spiritual and ontological model of social partnership. The model comprises the following components: representation of the educational content through the lens of business futurology on the part of teachers; selection of the educational content through the lens of spiritual and ontological intentions on the part of students; expert evaluation of the educational through the lens of the competitive business environment on the part of the employers. The effectiveness of social partnership is determined proceeding from justified indices: the extent of variability, flexibility and mobility when performing the tasks of teaching the students possessing social and creative assets that are in demand at the labor market in the sphere of children and youth leisure. The paper presents the quantitative and qualitative analysis of the data of questionnaire survey conducted among the directors of educational organizations of culture (a case study of Rostov region of the Russian Federation). The survey has allowed detecting a slight positive dynamics in their evaluations of the quality of specialists' training and outlining the prospects in the development of social partnership between the employers and the educational organizations.

Inverted multivariate calibration methods are used for the spectrometric determination of the total concentration (c.sub.[Sigma]) of substances of the same type in environmental samples and food products. They represent Ñ.sub.[Sigma] as a sum of generalized signals (A.sub.j), measured at different wavelengths ([lambda].sub.j) and multiplied by corresponding regression coefficients (k.sub.j). The values of k.sub.j are found using chemometric algorithms based on the absorption spectra of mixtures of the known composition included in the training set. At the additive absorbance of mixtures, this method of group analysis gives rather accurate results. The ability of determining the total concentration of analytes with nonadditive absorbance in this way is unobvious; this case has not been studied. The aim of this study was to test the applicability of inverted calibrations for the nonadditive absorbance of analytes. Mixtures of complex compounds of Cu, Co, Ni, Zn, and Pb with the photometric reagent 4-(2-pyridylazo)resorcinol (PAR) were used as model samples. Aqueous solutions of these complexes at pH 10 have rather similar absorption spectra with maxima at 490-530 nm. In the absorption spectra of many solutions containing ions of these metals and an excess of PAR, we observed statistically significant (up to 30 rel %) positive deviations from additivity. To construct an inverted calibration, 14 mixtures with a known total metal concentration (Ñ.sub.[Sigma] from 8 to 25 [micro]mol/L) were used; their absorbance was measured at six wavelengths. The least-squares estimates of regression coefficients were found using the Microsoft Excel software. Based on the resulting calibration, the c.sub.[Sigma] values were calculated for mixtures of test samples. Relative errors in determining Ñ.sub.[Sigma] did not exceed 8 rel % at RSD < 4%, and the systematic errors were statistically insignificant. A further increase in the number of analytical wavelengths and the size of the training set did not decrease the errors significantly. Thus, inverted calibrations are applicable to the determination of the total concentrations of similar substances with both additive and nonadditive absorbances of the sample., Author(s): I. V. Vlasova [sup.1] , V. I. Vershinin [sup.1] Author Affiliations: (1) grid.77431.36, 0000 0001 1010 7619, Dostoevsky State University, , 644077, Omsk, Russia For the spectrometric determination of [...]

Background: Geriatric depression with subjective memory complaints increases the risk for Alzheimer's Disease. Memantine, a neuroprotective drug, can improve depression and help prevent cognitive decline. In our 6-months clinical trial, escitalopram/memantine (ESC/MEM) improved mood and cognition compared to escitalopram/placebo treatment (ESC/PBO; NCT01902004). In this report, we investigated whether baseline brain white matter integrity in fronto-limbic-striatal tracts can predict clinical outcomes using fractional anisotropy (FA). Methods: Thirty-eight older depressed adults (mean age = 70.6, SD = 7.2) were randomized to ESC/MEM or ESC/PBO and underwent diffusion-weighted imaging (DWI) at 3 Tesla at baseline. Mood was assessed using the Hamilton Depression Rating Scale (HAMD), apathy using the Apathy Evaluation Scale (AES) and anxiety using the Hamilton Anxiety Scale (HAMA) at baseline and 6-months follow-up. FA was extracted from seven tracts of interest (six in each hemisphere and one commissural tract) associated with geriatric depression. Non-parametric General Linear Models were used to examine group differences in the association between FA and symptom improvement, controlling for age, sex, baseline symptom scores and scanner model, correcting for false discovery rate (FDR). Post-hoc tests further investigated group differences in axial, mean and radial diffusivity (AD, MD, and RD, respectively). Lastly, we performed an exploratory whole-brain model to test whether FA might be related to treatment response with memantine. Results: There were no differences in remission rates or HAMD change between groups. In bilateral anterior and posterior internal capsule tracts and bilateral inferior and right superior fronto-occipital (IFO and SFO) fasciculus, higher FA was associated with larger improvements in depressive symptoms for ESC/MEM, but not ESC/PBO, correcting for FDR. Lower MD in the left IFO and RD in the right anterior internal capsule were associated with improved treatment responses. We found no significant associations in the whole-brain analysis. Limitations: Included small sample size and high dropout. Conclusions: Higher baseline FA and lower RD and MD in hypothesized fronto-limbic-striatal tracts predicted greater improvement in mood and anxiety with ESC/MEM compared to ESC/PBO in geriatric depression. FA as a biomarker for white matter integrity may serve as a predictor of treatment response but requires confirmation in larger future studies.

Complex geological, gas geochemical and hydro meteorological studies were conducted to investigate the methane fields present in the bottom sediments and seawater of the Red River and Phu Khanh sedimentary basins. We demonstrate that the system of tectonic faults that formed the sedimentary basins of the Red River and the Phu Khanh (the eastern shelf and slope of Vietnam) created the necessary conditions for the generation and migration of endogenous methane into the bottom sediments and seawater. It is shown that dissolved methane in seawater can be transported by marine currents, which in turn can be influenced by seasonal and irregular synoptic processes. The research shows that part of the dissolved methane contained in the waters above the Ken Bau gas field can be transported to the south by the coastal Vietnamese current, which adapts to the conditions of the winter northeast monsoon. It is concluded that there could be at least two deep sources of hydrocarbon gas emissions in the Phu Khanh basin. The impact of Typhoon Nakri on the transport of dissolved methane in the water column of the Phu Khanh sedimentary basin has been investigated. The typhoon could create favorable hydrodynamic conditions for the movement of dissolved gases from oil and gas deposits near the coasts of the islands of Kalimantan and Palawan to the Phu Khanh basin. A possible route for this transfer has been identified. [ABSTRACT FROM AUTHOR]

Background: The advent of next-generation sequencing (NGS) has revolutionized the analysis of genetic data, enabling rapid identification of pathogenic variants in patients with inborn errors of immunity (IEI). Sometimes, the use of NGS-based technologies is associated with challenges in the evaluation of the clinical significance of novel genetic variants. Methods: In silico prediction tools, such as SpliceAI neural network, are often used as a first-tier approach for the primary examination of genetic variants of uncertain clinical significance. Such tools allow us to parse through genetic data and emphasize potential splice-altering variants. Further variant assessment requires precise RNA assessment by agarose gel electrophoresis and/or cDNA Sanger sequencing. Results: We found two novel heterozygous variants in the coding region of the LYST gene (c.10104G>T, c.10894A>G) in an individual with a typical clinical presentation of Chediak–Higashi syndrome (CHS). The SpliceAI neural network predicted both variants as probably splice-altering. cDNA assessment by agarose gel electrophoresis revealed the presence of abnormally shortened splicing products in each variant's case, and cDNA Sanger sequencing demonstrated that c.10104G>T and c.10894A>G substitutions resulted in a shortening of the 44 and 49 exons by 41 and 47 bp, respectively. Both mutations probably lead to a frameshift and the formation of a premature termination codon. This, in turn, may disrupt the structure and/or function of the LYST protein. Conclusions: We identified two novel variants in the LYST gene, predicted to be deleterious by the SpliceAI neural network. Agarose gel cDNA electrophoresis and cDNA Sanger sequencing allowed us to verify inappropriate splicing patterns and establish these variants as disease-causing. [ABSTRACT FROM AUTHOR]