Miracle-dz/UniFAR-FTUs huggingface dataset:
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders

Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or “single event” variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or “single event” variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype–phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or “single event” variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.
Financial Performance Analysis of Firms in the Energy Sector with Multi-Criteria Decision-Making Methods

Today, in the energy sector, as in all other sectors, there are some risks and a competitive environment. Performance measurements have great importance in the analysis of how well-prepared they are against current risks and in order for businesses to continue to take place in the competitive environment without losing value. Financial performance analysis, on the other hand, covers the general analysis made to determine the strategic path to be drawn by determining the financial risks that businesses may face. Based on this, financial performance analysis of energy companies in the Borsa Istanbul (BIST) energy sector were made in this study. As a result of the analysis, the companies were compared both within themselves and with each other. In the study, the values obtained from the financial statements of the companies with the Ratio Analysis method were converted into numerical data to be used as criteria by means of various formulas. At the stage of obtaining the weights of the determined criteria, first of all, the criteria were evaluated by the experts in the energy sector through a questionnaire and then the weights were obtained by using the Analytical Hierarchy Process (AHP) method. In the analysis phase, the Ranking Technique in terms of Similarity to the Ideal Solution (TOPSIS) and Multi-Criteria optimization and Compromise Solution (VIKOR) methods were used. The study was carried out within the scope of 2015–2019 data of 10 energy companies in the energy sector. As a result of the study, it is aimed to evaluate the financial performance analysis of the companies, as well as to test the usability of Multi-Criteria Decision Making methods in this field and to present the results to the literature by comparing them with each other.
Exploring the Impact of the Linker Length on Heat Transport in Metal–Organic Frameworks

Metal–organic frameworks (MOFs) are a highly versatile group of porous materials suitable for a broad range of applications, which often crucially depend on the MOFs’ heat transport properties. Nevertheless, detailed relationships between the chemical structure of MOFs and their thermal conductivities are still largely missing. To lay the foundations for developing such relationships, we performed non-equilibrium molecular dynamics simulations to analyze heat transport in a selected set of materials. In particular, we focus on the impact of organic linkers, the inorganic nodes and the interfaces between them. To obtain reliable data, great care was taken to generate and thoroughly benchmark system-specific force fields building on ab-initio-based reference data. To systematically separate the different factors arising from the complex structures of MOF, we also studied a series of suitably designed model systems. Notably, besides the expected trend that longer linkers lead to a reduction in thermal conductivity due to an increase in porosity, they also cause an increase in the interface resistance between the different building blocks of the MOFs. This is relevant insofar as the interface resistance dominates the total thermal resistance of the MOF. Employing suitably designed model systems, it can be shown that this dominance of the interface resistance is not the consequence of the specific, potentially weak, chemical interactions between nodes and linkers. Rather, it is inherent to the framework structures of the MOFs. These findings improve our understanding of heat transport in MOFs and will help in tailoring the thermal conductivities of MOFs for specific applications.
Changes in Distribution Patterns for Larimichthys polyactis in Response to Multiple Pressures in the Bohai Sea Over the Past Four Decades

Understanding patterns of change in the distribution of species among their critical habitats is important for analyzing population dynamics and adaptive responses to environmental shifts. We investigated spatio-temporal changes in small yellow croaker (Larimichthys polyactis) using eight alternative models fitted to data from bottom trawl surveys conducted in the Bohai Sea each spring (spawning period) and summer during 1982–2018. These models included different combinations of local sea temperature, fishing pressure, and individual climate index (i.e., North Pacific index, NPI, and West Pacific index, WPI) as explanatory variables. Selection of the most parsimonious model for each season was based on Akaike’s Information Criterion (AIC). The model with NPI as its only explanatory variable was used as a base case for pre-analysis. In spring, a spatio-temporal model with sea temperature as a quadratic effect, plus the spatially varying effects of a climate index and fishing pressure was selected, as the AIC value of this model was reduced by 41.491 compared to the base case model without these effects. In the summer after spawning, the spatio-temporal model with WPI as a climate index covariate lagged by 1-year best explained the spatio-temporal distribution patterns of the stock. The results suggested that small yellow croaker populations significantly decreased in biomass in the Bohai Sea over the study period. A statistically significant northeastward shift in the center of gravity (COG) and a contraction in the distribution range occurred in summer throughout the study period (p<0.05). During the spring sequence (1993–2018), a statistically significant northeastward shift in the COG was also found (p<0.05). Our results showed that biomass-density hotspots of small yellow croaker in both seasons have shrunk or disappeared in recent years. Overall, these findings suggest that the spatio-temporal patterns of the populations in their spawning, feeding and nursery grounds have been influenced over the past 40 years by multiple pressures, and population density in the southwestern areas of the Bohai Sea declined faster and more drastically than in the northeastern areas. This study has important implications for developing targeted spatial conservation measures for small yellow croaker at various stages of its life history under different levels of stress.
Unravelling Stratified Microbial Assemblages in Australia’s Only Deep Anchialine System, The Bundera Sinkhole

Bundera sinkhole, located in north-western Australia, is the only known continental anchialine system in the Southern Hemisphere. Anchialine environments are characterised by stratified water columns with complex physicochemical profiles spanning hypoxic and anoxic regions, often displaying high levels of endemism. Research on these systems has focused on eukaryotic fauna, however interest in the microbial diversity of these environments is growing, enabled by next-generation DNA sequencing. Here we report detailed analyses of the microbial communities across a depth profile within Bundera sinkhole (from 2 to 28 m), involving parallel physicochemical measurements, cell population counts and 16S rRNA amplicon analyses. We observed clear shifts in microbial cell counts, community diversity, structure and membership across the depth profile, reflecting changing levels of light, organic and inorganic energy sources as well as shifts in pH and salinity. While Proteobacteria were the most abundant phylum found, there was a high degree of taxonomic novelty within these microbial communities, with 13,028 unique amplicon sequence variants (ASVs) identified, belonging to 67 identifiable bacterial and archaeal phyla. Of these ~4,600, more than one third of the total, were unclassified below family level. A small number of ASVs were highly abundant at select depths, all of which were part of the set not classified below family level. The 2 m and 6 m samples had in common two highly abundant ASVs, belonging to the Ectothiorhodospiraceae and Thiotrichaceae families, while the 8 m community contained a single predominant ASV belonging to family Thioglobaceae. At lower depths a different Ectothiorhodospiraceae ASV comprised up to 68% relative abundance, peaking at 26 and 28 m. Canonical correspondence analyses indicated that community structure was strongly influenced by differences in key physicochemical parameters, particularly salinity, dissolved organic and inorganic carbon, phosphate and sulphate concentrations. This work highlights the potential for anchialine systems to house considerable microbial novelty, potentially driven by adaptations to the specific physicochemical makeup of their local environment. As only a small number of anchialine systems have been examined via microbial community studies to date, this work is particularly valuable, contributing new insight regarding the microbial residents of these important and sensitive environments.
When are global decisions strategic?

Research Summary: A robust academic field must set and revisit boundary conditions that define where, when, and to whom its insights apply. This is particularly true for a field such as global strategy where the ubiquity of the key terms invites indiscriminate use of the phrase. This essay argues that it is useful to define the field of global strategy as the subset of questions that meet the criteria for both “ global ” and “ strategic ” decisions. We offer an a priori approach to identifying and formulating problems that are unique to the global strategy field, suggest how our approach may help scholars better understand the “ strategicness ” of global decisions, and ultimately, offer a way for individuals with varied disciplinary or topical interests to connect with the field's core. Managerial Summary: It has been observed that few executives can clearly articulate their firm's global strategy. This observation is disappointing given the development of theoretical insights from the fields of international business and strategic management that suggest alternative ways in which organizations can reliably and repeatedly create, capture, and deliver value. The existence of this shortcoming suggests that it will be beneficial to develop unambiguous statements that define what constitutes a global, a strategic, and a globally strategic decision. This essay offers a priori
Insight of a Metabolic Prognostic Model to Identify Tumor Environment and Drug Vulnerability for Lung Adenocarcinoma

Metabolic reprogramming is a novel method for the treatment of malignant tumors. The exploration of metabolism procedures between radiosensitive and radioresistant tumors may provide novel perspectives for lung adenocarcinoma (LUAD) patients after radiation therapy. In our study, metabolic reprogramming and immune response changes were found between radioresistant cell line (A549RR) and its parent cells (A549) using gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis. Nucleotide/amino acid, lipid, and glucose metabolic process, including Alanine, aspartate and glutamate metabolism, Tryptophan/Tyrosine metabolism, Butanoate metabolism, Purine/Pyrimidine metabolism, were screened out. Then molecular signatures database and The Cancer Genome Atlas Program (TCGA) lung adenocarcinoma datasets were used to identify metabolism-related genes (MRGs) between radiosensitive and radioresistant lung adenocarcinoma (LUAD) cells. A metabolism-based prognostic model, receiver operating characteristic (ROC) curve and nomogram were constructed using Metabolism Score calculated by 14 metabolism-related genes (MRGs). Three independent public datasets, (GSE72094, GSE3141, GSE8894) and one immunotherapy cohort (IMvigor210) were used as external validation cohorts. Expression of 14 hub genes in cells, normal and LUAD specimens were explored by Human Protein Atlas, TIMER2.0 and RT-qPCR. Patients with low-Metabolism Scores were correlated with longer survival times, higher response rates to immune checkpoint inhibitors (ICIs), different immune cell infiltrations and drug vulnerability. Our study demonstrated a comprehensive landscape between radiosensitive and radioresistant LUAD, and provide novel targets for NSCLC, especially those patients received radiation therapy. Moreover, this metabolism-based prognostic model may help to investigate connections between radiosensitivity, immune response, metabolic reprogramming, and patients’ prognosis.
Recognition Method of Knob Gear in Substation Based on YOLOv4 and Darknet53-DUC-DSNT

When unattended substations are popular, the knob is a vital monitoring object for unattended substations. However, in the actual scene of the substation, the recognition method of a knob gear has low accuracy. The main reasons are as follows. Firstly, the SNR of knob images is low due to the influence of lighting conditions, which are challenging to extract image features. Secondly, the image deviates from the front view affected by the shooting angle; that knob has a certain deformation, which causes the feature judgment to be disturbed. Finally, the feature distribution of each kind of knob is inconsistent, which interferes with image extraction features and leads to weak spatial generalization ability. For the above problems, we propose a three-stage knob gear recognition method based on YOLOv4 and Darknet53-DUC-DSNT models for the first time and apply key point detection of deep learning to knob gear recognition for the first time. Firstly, YOLOv4 is used as the knob area detector to find knobs from a picture of a cabinet panel. Then, Darknet53, which can extract features, is used as the backbone network for keypoint detection of knobs, combined with DUC structure to recover detailed information and DSNT structure to enhance feature extraction and improve spatial generalization ability. Finally, we obtained the knob gear by calculating the angle between the line of the rotating center point and the pointing point and horizontal direction. The experimental results show that this method effectively solves the above problems and improves the performance of knob gear detection.
A 4 × 4 Millimeterwave-Frequency Butler Matrix in Grounded Co-Planar Waveguide Technology for Compact Integration With 5G Antenna Arrays

This article presents a novel <inline-formula> <tex-math notation="LaTeX">$4\times 4$ </tex-math></inline-formula> Butler matrix implemented in the grounded co-planar waveguide (GCPW) technology, compactly integrated with a highly efficient and broadband <inline-formula> <tex-math notation="LaTeX">$1\times 4$ </tex-math></inline-formula> air-filled substrate integrated waveguide (AFSIW) cavity-backed patch antenna array (AA), giving rise to a broad operational frequency range [23.75, 31 GHz] (26.5%) covering the n257, n258, and n261 fifth-generation (5G) bands. Three novel quadrature hybrid couplers and two crossovers are designed and compared to obtain the optimal building blocks for the Butler matrix. Within each of the supported 5G bands, the measured excess insertion loss of the optimized Butler matrix remains smaller than 3.5dB with a maximal amplitude imbalance of ±0.9dB. Isolation between input ports is higher than 16.4dB. A maximal measured realized gain of 12.3dBi is obtained for the Butler matrix with integrated <inline-formula> <tex-math notation="LaTeX">$1\times 4$ </tex-math></inline-formula> AA while ensuring a −3-dB beamwidth coverage of 110°. The main beamsteering directions of [−40°, −14°, 14°, 40°] exhibit measured deviations that stay within ±3°. The fabricated Butler matrix with AA features a very compact footprint of 21.4 mm <inline-formula> <tex-math notation="LaTeX">$\times$ </tex-math></inline-formula> 46.0 mm <inline-formula> <tex-math notation="LaTeX">$\times $ </tex-math></inline-formula> 2 mm [<inline-formula> <tex-math notation="LaTeX">$2\lambda _{0} \times 4.3\lambda _{0} \times 0.2\lambda _{0}$ </tex-math></inline-formula>].
Research and development of public service platform for integrated circuit test

Integrated circuit (IC) test is a key technical part of IC chain, which works through the entire life cycle of IC design, manufacturing, packaging, and application. Based on the increasing requirements of IC test, this paper analyzes the breakthrough point to promote the development of IC test and puts forward an accurate and feasible programme of public test platform construction so as to achieve long-term sustainable development of IC industry.
Genome-Wide Association Mapping of Hulless Barely Phenotypes in Drought Environment

Drought stress is one of the main factors restricting hulless barley (Hordeum vulgare L. var. nudum Hook. f.) yield. Genome-wide association study was performed using 269 lines of hulless barley to identify single-nucleotide polymorphism (SNP) markers associated with drought-resistance traits. The plants were cultured under either normal or drought conditions, and various quantitative traits including shoot fresh weight, shoot dry weight, root fresh weight, root dry weight, leaf fresh weight, leaf saturated fresh weight, leaf dry weight, ratio of root and shoot fresh weight, ratio of root and shoot dry weight, shoot water loss rate, root water loss rate, leaf water content and leaf relative water content, and field phenotypes including main spike length, grain number per plant, grain weight per plant, thousand grain weight (TGW), main spike number, plant height, and effective spike number of plants were collected. After genotyping the plants, a total of 8,936,130 highly consistent population SNP markers were obtained with integrity > 0.5 and minor allele frequency > 0.05. Eight candidate genes potentially contributed to the hulless barley drought resistance were obtained at loci near significant SNPs. For example, EMB506, DCR, and APD2 genes for effective spike number of plants, ABCG11 gene for main spike number (MEN), CLPR2 gene for main spike length, YIP4B gene for root and shoot dry weight (RSWD), and GLYK and BTS genes for TGW. The SNPs and candidate genes identified in this study will be useful in hulless barley breeding under drought resistance.
An Analysis Method of Exercise Load in Physical Training Based on Radial Basis Neural Network Model

In the training process of professional athletes, to optimize the training plan and make the athletes play the best competitive state at a special time point, it is usually achieved by controlling the training load and active and effective recovery process. For the general public, daily exercise is mainly for physical fitness and physical rehabilitation. Whether it is a professional athlete or the general public, there are times when injuries occur during sports. The appropriate degree of exercise load varies from person to person. According to different sports, people’s exercise suitability is also different. Therefore, it is meaningful to analyze and monitor the exercise load of the athlete during exercise. This paper proposes to use radial basis neural network (RBFNN) in the analysis of sports f-load of athletes. RBFNN is a kind of neural network that relies on error backpropagation for parameter adjustment, and its convergence speed is slow. When the data dimension is large and the amount of data is large, it will affect the classification accuracy of the data. For this reason, this paper integrates the gray wolf optimization algorithm (GWO) and RBFNN, and applies GWO to the initial value determination of weights and thresholds, which can effectively reduce the adjustment range of parameters and improve the accuracy of data classification. The model can more accurately analyze the exercise load state of athletes during exercise. The experimental results show that the high-quality heart rate data can be classified based on the model used in this paper, so that the exercise load state can be correctly judged. This has a good reference value for the analysis of exercise load during sports training and the next monitoring.
An On-Chip Relaxation Oscillator in 5-nm FinFET Using a Frequency-Error Feedback Loop

Availability of a reliable ON-chip oscillator can secure a system-on-chip (SoC) against physical clock attacks by enabling applications such as boot-up using ON-chip oscillator and hardware clock monitors. This article proposes a frequency-error feedback (FEF) loop-based relaxation oscillator for such applications. It suppresses the low-frequency noise and improves the time interval error (TIE) without degrading the period jitter. It also stabilizes the oscillator against supply and temperature variations. A 77-MHz oscillator prototype is fabricated in a commercial 5-nm FinFET process. Operating from 0.9-V digital and 1.2-V analog supplies, the prototype consumes a total of 0.84 mW and occupies an area of 0.0152 mm <sup>2</sup>. It achieves a TIE of 3 ns over 10 K cycles which is <inline-formula> <tex-math notation="LaTeX">$3\times $ </tex-math></inline-formula> better than an oscillator without an FEF loop. Chip samples are picked from four wafer split lots. The worst case frequency variation measured from 16 samples is <inline-formula> <tex-math notation="LaTeX">$\pm 0.25\%$ </tex-math></inline-formula> across an analog supply change of 1.1–1.35 V, while a variation of <inline-formula> <tex-math notation="LaTeX">$\pm 0.3\%$ </tex-math></inline-formula> is measured over −40 to <inline-formula> <tex-math notation="LaTeX">$125 ^\circ \text{C}$ </tex-math></inline-formula> temperature from eight samples.