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1.
PLoS One ; 19(5): e0303570, 2024.
Article En | MEDLINE | ID: mdl-38781202

Boron cluster sheets are two-dimensional boron atom-based formations called borophene. They are similar to the two-dimensional sheet known as graphene, which is composed of carbon atoms arranged in a hexagonal lattice. The unique electrical, mechanical, and thermal properties of borophene make it a sought-after substance for a variety of uses, such as catalysis, energy storage, and electronics. There are two ways to manufacture borophene: chemical vapor deposition and molecular beam epitaxy. Vertex-edge valency-based topological descriptors are a great example of a molecular descriptor that provides information on the connection of atoms in a molecule. These descriptions are based on the notion that a node's value in a molecular network is the sum of the valency of those atoms that are directly connected to that node. In this article, we discussed some novel vertex-edge (ve) and edge-vertex (ev) topological descriptors and found their formulations for the boron cluster or borophene sheets. Also, we show the numerical and graphical comparison of these descriptors in this article.


Boron , Boron/chemistry , Boron Compounds/chemistry , Graphite/chemistry , Models, Molecular , Molecular Structure
2.
PeerJ ; 12: e17191, 2024.
Article En | MEDLINE | ID: mdl-38699184

Context: Exogenous use of potential organic compounds through different modes is a promising strategy for the induction of water stress tolerance in crop plants for better yield. Aims: The present study aimed to explore the potential role of alpha-lipoic acid (ALA) in inducing water stress tolerance in mungbean lines when applied exogenously through various modes. Methods: The experiment was conducted in a field with a split-plot arrangement, having three replicates for each treatment. Two irrigation regimes, including normal and reduced irrigation, were applied. The plants allocated to reduced irrigation were watered only at the reproductive stage. Three levels of ALA (0, 0.1, 0.15 mM) were applied through different modes (seed priming, foliar or priming+foliar). Key results: ALA treatment through different modes manifested higher growth under reduced irrigation (water stress) and normal irrigation. Compared to the other two modes, the application of ALA as seed priming was found more effective in ameliorating the adverse impacts of water stress on growth and yield associated with their better content of leaf photosynthetic pigments, maintenance of plant water relations, levels of non-enzymatic antioxidants, improved activities of enzymatic antioxidants, and decreased lipid peroxidation and H2O2 levels. The maximum increase in shoot fresh weight (29% and 28%), shoot dry weight (27% and 24%), 100-grain weight (24% and 23%) and total grain yield (20% and 21%) in water-stressed mungbean plants of line 16003 and 16004, respectively, was recorded due to ALA seed priming than other modes of applications. Conclusions: Conclusively, 0.1 and 0.15 mM levels of ALA as seed priming were found to reduce the adverse impact of water stress on mungbean yield that was associated with improved physio-biochemical mechanisms. Implications: The findings of the study will be helpful for the agriculturalists working in arid and semi-arid regions to obtain a better yield of mungbean that will be helpful to fulfill the food demand in those areas to some extent.


Antioxidants , Droughts , Photosynthesis , Thioctic Acid , Vigna , Vigna/growth & development , Vigna/drug effects , Vigna/metabolism , Thioctic Acid/pharmacology , Antioxidants/metabolism , Photosynthesis/drug effects , Plant Leaves/drug effects , Plant Leaves/growth & development , Plant Leaves/metabolism , Dehydration , Chlorophyll/metabolism , Lipid Peroxidation/drug effects
3.
PLoS One ; 19(5): e0303848, 2024.
Article En | MEDLINE | ID: mdl-38805425

In this paper, the existence and uniqueness of solution for a fractional differential model involving well-posed boundary conditions and implicit fractional differential equation is considered. The desired goals are achieved by using Banach contraction principle and Scheafer's fixed point theorem. To show the results applicability some examples are presented. The basic mathematical concept of well-posed fractional boundary value issues is investigated in this study. It dives into the existence and uniqueness of these difficulties, offering light on the conditions that allow for both practical and singular solutions. This study contributes to a better knowledge of fractional calculus and its applications in a variety of scientific and technical areas, giving significant insights for both scholars and practitioners.


Models, Theoretical , Algorithms
4.
J Agric Food Chem ; 72(20): 11682-11693, 2024 May 22.
Article En | MEDLINE | ID: mdl-38739764

Phytophthora blight of pepper, which is caused by the notorious oomycete pathogen Phytophthora capsici, is a serious disease in global pepper production regions. Our previous study had identified two WRKY transcription factors (TFs), CaWRKY01-10 and CaWRKY08-4, which are prominent modulators in the resistant pepper line CM334 against P. capsici infection. However, their functional mechanisms and underlying signaling networks remain unknown. Herein, we determined that CaWRKY01-10 and CaWRKY08-4 are localized in plant nuclei. Transient overexpression assays indicated that both CaWRKY01-10 and CaWRKY08-4 act as positive regulators in pepper resistance to P. capsici. Besides, the stable overexpression of CaWRKY01-10 and CaWRKY08-4 in transgenic Nicotiana benthamiana plants also significantly enhanced the resistance to P. capsici. Using comprehensive approaches including RNA-seq, CUT&RUN-qPCR, and dual-luciferase reporter assays, we revealed that overexpression of CaWRKY01-10 and CaWRKY08-4 can activate the expressions of the same four Capsicum annuum defense-related genes (one PR1, two PR4, and one pathogen-related gene) by directly binding to their promoters. However, we did not observe protein-protein interactions and transcriptional amplification/inhibition effects of their shared target genes when coexpressing these two WRKY TFs. In conclusion, these data suggest that both of the resistant line specific upregulated WRKY TFs (CaWRKY01-10 and CaWRKY08-4) can confer pepper's resistance to P. capsici infection by directly activating a cluster of defense-related genes and are potentially useful for genetic improvement against Phytophthora blight of pepper and other crops.


Capsicum , Disease Resistance , Gene Expression Regulation, Plant , Phytophthora , Plant Diseases , Plant Proteins , Transcription Factors , Phytophthora/physiology , Plant Diseases/microbiology , Plant Diseases/genetics , Plant Diseases/immunology , Capsicum/genetics , Capsicum/microbiology , Capsicum/immunology , Disease Resistance/genetics , Plant Proteins/genetics , Plant Proteins/metabolism , Plant Proteins/immunology , Transcription Factors/genetics , Transcription Factors/metabolism , Plants, Genetically Modified/genetics , Plants, Genetically Modified/microbiology , Plants, Genetically Modified/immunology
5.
Sci Rep ; 14(1): 10816, 2024 May 11.
Article En | MEDLINE | ID: mdl-38734743

r, s, t-spherical fuzzy (r, s, t-SPF) sets provide a robust framework for managing uncertainties in decision-making, surpassing other fuzzy sets in their ability to accommodate diverse uncertainties through the incorporation of flexible parameters r, s, and t. Considering these characteristics, this article explores sine trigonometric laws to enhance the applicability and theoretical foundation for r, s, t-SPF setting. Following these laws, several aggregation operators (AOs) are designed for aggregation of the r, s, t-SPF data. Meanwhile, the desired characteristics and relationships of these operators are studied under sine trigonometric functions. Furthermore, we build a group decision-making algorithm for addressing multiple attribute group decision-making (MAGDM) problems using the developed AOs. To exemplify the applicability of the proposed algorithm, we address a practical example regarding laptop selection. Finally, parameter analysis and a comprehensive comparison with existing operators are conducted to uncover the superiority and validity of the presented AOs.

6.
PLoS One ; 19(4): e0294932, 2024.
Article En | MEDLINE | ID: mdl-38603666

An important dietary source of physiologically active compounds, coffee also contains phenolic acids, diterpenes, and caffeine. According to a certain study, some coffee secondary metabolites may advantageously modify a number of anti-cancer defense systems. This research looked at a few coffee chemical structures in terms of edge locating numbers or edge metric size to better understand the mechanics of coffee molecules. Additionally, this research includes graph theoretical properties of coffee chemical structures. The chemicals found in coffee, such as caffeine, diterpene or cafestol, kahweol, chlorogenic, caffeic, gallotannins, and ellagitannins, are especially examined in these publications.


Diterpenes , Neoplasms , Humans , Coffee/chemistry , Caffeine , Diet
7.
Heliyon ; 10(5): e27488, 2024 Mar 15.
Article En | MEDLINE | ID: mdl-38495208

In sampling theory, a majority of the available estimators of population variance are designed for use with non-sensitive variables only. Such estimators cannot perform efficiently when the variable of interest is of sensitive nature, such as use of drugs, illegal income, abortion, cheating in examination, the amount of income tax payable, and the violation of rules by employees, etc. In the current literature, the shortage of research studies on variance estimators of a sensitive variable has created a big research gap and a room for improvement in the efficiency of such estimators. In this paper, a new randomized scrambling technique is proposed, along with a new estimator of population variance. The new estimator achieves improvement in efficiency over the available variance estimators. The proposed estimator is designed for use with simple random sampling and uses the information on an auxiliary variable. The improvement in efficiency is shown for different choices of constants. Besides efficiency, improvement in the unified measure of estimator quality is also achieved with the proposed estimator under the new randomized response model.

8.
Molecules ; 29(6)2024 Mar 19.
Article En | MEDLINE | ID: mdl-38542997

The current study aimed to evaluate the presence of chemical variations in essential oils (EOs) extracted from Artemisia scoparia growing at different altitudes and to reveal their antibacterial, mosquito larvicidal, and repellent activity. The gas chromatographic-mass spectrometric analysis of A. scoparia EOs revealed that the major compounds were capillene (9.6-31.8%), methyleugenol (0.2-26.6%), ß-myrcene (1.9-21.4%), γ-terpinene (1.5-19.4%), trans-ß-caryophyllene (0.8-12.4%), and eugenol (0.1-9.1%). The EO of A. scoparia collected from the city of Attock at low elevation was the most active against Staphylococcus aureus, Bacillus subtilis, Escherichia coli, and Pseudomonas aeruginosa bacteria (minimum inhibitory concentration of 156-1250 µg/mL) and showed the best mosquito larvicidal activity (LC50, 55.3 mg/L). The EOs of A. scoparia collected from the high-altitude areas of Abbottabad and Swat were the most repellent for females of Ae. aegypti and exhibited repellency for 120 min and 165 min, respectively. The results of the study reveal that different climatic conditions and altitudes have significant effects on the chemical compositions and the biological activity of essential oils extracted from the same species.


Aedes , Artemisia , Insect Repellents , Insecticides , Oils, Volatile , Polycyclic Sesquiterpenes , Scoparia , Female , Animals , Oils, Volatile/pharmacology , Oils, Volatile/chemistry , Insect Repellents/pharmacology , Insect Repellents/chemistry , Altitude , Insecticides/chemistry , Anti-Bacterial Agents/pharmacology , Larva , Plant Oils/chemistry
9.
J Photochem Photobiol B ; 253: 112876, 2024 Apr.
Article En | MEDLINE | ID: mdl-38452453

Energy has always been the most concerned topic worldwide due to its large consumption. Among various types of energies, light has amazing characteristics and have interesting effects on living organisms. Interest is increasing in the use of laser kernel treatment as an environment friendly physical technique for better results in agronomic crops, but the work is still in progress. The present study was conducted with the aim to examine the application of range of Neodymium-doped Yttrium Aluminum Garnet (Nd:YAG) pulsed laser exposures (200, 400, 600, 800, 1000, 1200, 1400 J/cm2) as pre-sowing kernel treatment on seedling survival rate, leaf photosynthetic activity in relation with photosynthetic pigments and visual morphological effects at seedling to maturity stage. Results showed that the low laser exposure (200, 400 and 600 J/cm2) improved the photosynthetic activity in parallel with improvement in chlorophyll a, chlorophyll b, total chlorophyll, carotenoids as well as morphological traits. Kernel treatments with higher laser fluences (800, 1000, 1200 and 1400 J/cm2) showed irregular responses in studied attributes examined at the individual plant level. At 800 and 1000 J/cm2 improvements were found in some plants but at higher doses clear negative impacts were recorded on studied attributes. In conclusion, the lower doses of Nd:YAG pulsed laser fluences are found beneficial for induction of improvement in maize plants for better growth but higher doses were found toxic ones. In future further studies are needed to check the impacts of low laser doses on yield related attributes under field conditions and the high doses might also be used to create variants with beneficial characteristics if possible.


Lasers, Solid-State , Lasers, Solid-State/therapeutic use , Zea mays , Chlorophyll A , Photosynthesis , Light , Treatment Outcome
10.
Biology (Basel) ; 13(3)2024 Mar 14.
Article En | MEDLINE | ID: mdl-38534455

Phytophthora blight of pepper is a notorious disease caused by the oomycete pathogen Phytophthora capsici, which poses a great threat to global pepper production. MicroRNA (miRNA) is a class of non-coding small RNAs that regulate gene expressions by altering the translation efficiency or stability of targeted mRNAs, which play important roles in the regulation of a plant's response to pathogens. Herein, time-series mRNA-seq libraries and small RNA-seq libraries were constructed using pepper roots from the resistant line CM334 and the susceptible line EC01 inoculated with P. capsici at 0, 6, 24, and 48 h post-inoculation, respectively. For mRNA-seq analysis, a total of 2159 and 2971 differentially expressed genes (DEGs) were identified in CM334 and EC01, respectively. For miRNA-seq analysis, 491 pepper miRNAs were identified, including 330 known miRNAs and 161 novel miRNAs. Among them, 69 and 88 differentially expressed miRNAs (DEMs) were identified in CM334 and EC01, respectively. Examination of DEMs and their targets revealed 22 regulatory networks, predominantly featuring up-regulated miRNAs corresponding to down-regulated target genes. Notably, these DEM-DEG regulatory networks exhibited significant overlap between CM334 and EC01, suggesting that they might contribute to pepper's basal defense against P. capsici. Furthermore, five selected DEMs (miR166, miR1171, miR395, miR530 and miRN2) and their target genes underwent qRT-PCR validation, confirming a consistent negative correlation in the expression patterns of miRNAs and their targets. This comprehensive analysis provides novel insights into the regulatory networks of miRNAs and their targets, offering valuable contributions to our understanding of pepper's defense mechanisms against P. capsici.

11.
Heliyon ; 10(5): e26992, 2024 Mar 15.
Article En | MEDLINE | ID: mdl-38444503

The exploration of edge metric dimension and its applications has been an ongoing discussion, particularly in the context of nanosheet graphs formed from the octagonal grid. Edge metric dimension is a concept that involves uniquely identifying the entire edge set of a structure with a selected subset from the vertex set, known as the edge resolving set. Let's consider two distinct edge resolving sets, denoted as Re1 and Re2, where Re1≠Re2. In such instances, it indicates that the graph G possesses a double-edge resolving set. This implies the existence of two different subsets of the vertex set, each capable of uniquely identifying the entire edge set of the graph. In this article, we delve into the edge metric dimension of nanosheet graphs derived from the octagonal grid. Additionally, we initiate a discussion on the exchange property associated with the edge resolving set. The exchange property holds significance in the study of resolving sets, playing a crucial role in comprehending the structure and properties of the underlying graph.

13.
Sci Rep ; 14(1): 4719, 2024 02 27.
Article En | MEDLINE | ID: mdl-38413677

Hindlimb suspension (HLS) mice exhibit osteoporosis of the hindlimb bones and may be an excellent model to test pharmacological interventions. We investigated the effects of inhibiting endoplasmic reticulum (ER) stress with 4-phenyl butyrate (4-PBA) on the morphology, physicochemical properties, and bone turnover markers of hindlimbs in HLS mice. We randomly divided 21 male C57BL/6J mice into three groups, ground-based controls, untreated HLS group and 4-PBA treated group (HLS+4PBA) (100mg/kg/day, intraperitoneal) for 21 days. We investigated histopathology, micro-CT imaging, Raman spectroscopic analysis, and gene expression. Untreated HLS mice exhibited reduced osteocyte density, multinucleated osteoclast-like cells, adipocyte infiltration, and reduced trabecular striations on micro-CT than the control group. Raman spectroscopy revealed higher levels of ER stress, hydroxyproline, non-collagenous proteins, phenylalanine, tyrosine, and CH2Wag as well as a reduction in proteoglycans and adenine. Furthermore, bone alkaline phosphatase and osteocalcin were downregulated, while Cathepsin K, TRAP, and sclerostin were upregulated. Treatment with 4-PBA partially restored normal bone histology, increased collagen crosslinking, and mineralization, promoted anti-inflammatory markers, and downregulated bone resorption markers. Our findings suggest that mitigating ER stress with 4-PBA could be a therapeutic intervention to offset osteoporosis in conditions mimicking hindlimb suspension.


Butylamines , Hindlimb Suspension , Osteoporosis , Mice , Male , Animals , Mice, Inbred C57BL , Osteoporosis/drug therapy , Endoplasmic Reticulum Stress
14.
Heliyon ; 10(1): e23574, 2024 Jan 15.
Article En | MEDLINE | ID: mdl-38187275

The Internet has become a vital source of knowledge and communication in recent times. Continuous technological advancements have changed the way businesses operate, and everyone today lives in the digital world of engineering. Because of the Internet of Things (IoT) and its applications, people's impressions of the information revolution have improved. Malware detection and categorization are becoming more of a problem in the cybersecurity world. As a result, strong security on the Internet could protect billions of internet users from harmful behavior. In malware detection and classification techniques, several types of deep learning models are used; however, they still have limitations. This study will explore malware detection and classification elements using modern machine learning (ML) approaches, including K-Nearest Neighbors (KNN), Extra Tree (ET), Random Forest (RF), Logistic Regression (LR), Decision Tree (DT), and neural network Multilayer Perceptron (nnMLP). The proposed study uses the publicly available dataset UNSWNB15. In our proposed work, we applied the feature encoding method to convert our dataset into purely numeric values. After that, we applied a feature selection method named Term Frequency-Inverse Document Frequency (TFIDF) based on entropy for the best feature selection. The dataset is then balanced and provided to the ML models for classification. The study concludes that Random Forest, out of all tested ML models, yielded the best accuracy of 97.68 %.

16.
Funct Plant Biol ; 51(1): NULL, 2024 Jan.
Article En | MEDLINE | ID: mdl-37980713

Salinity affects crop growth by modulating cellular ionic concentrations and generation of reactive oxygen species. Application of silicon (Si) has proved beneficial in ameliorating salinity-triggered plant growth and yield retardations. Leaf roll explants of three sugarcane (Saccharum officinarum ) genotypes (HSF-240, CPF-246, CPF-250) were cultured in Murashige and Skoog (MS) medium supplemented with K2 SiO3 . In vitro regenerated plantlets were acclimatised and grown in natural saline soil. In absence of Si, cv. CPF-246 exhibited better salt tolerance as indicted by maximum chlorophyll a and chlorophyll b contents, rate of photosynthesis and root K+ uptake along with less cellular hydrogen peroxide content. Silicon restricted root Na+ uptake but assisted in K+ , Ca2+ , Mg2+ and Fe2+ accretion in roots and their translocation towards shoots. Cv. HSF-240 and cv. CPF-250 exhibited more increase in photosynthetic pigment content, stomatal conductance and photosynthetic rate after addition of 25 or 50mgL-1 Si than control group. Optimum phenolic content and antioxidant enzyme activity along with decreased lipid peroxidation and hydrogen peroxide content were recorded in all three sugarcane genotypes raised in presence of 25 or 50mgL-1 Si. These findings signify Si supplementation (50mgL-1 ) in tissue culture medium and plant adaptation in saline soil. Further in vitro studies involving Si-mediated gene expression modulations in sugarcane protoplasts shall assist in deciphering cross-talk between Si uptake and cellular responses. The application of Si can further be tested for other plant species to devise strategies for improved crop growth and utilisation of saline areas for crop cultivation.


Antioxidants , Saccharum , Antioxidants/metabolism , Saccharum/metabolism , Silicon/pharmacology , Chlorophyll A , Soil , Hydrogen Peroxide , Saline Solution , Dietary Supplements , Nutrients
17.
Eur Phys J E Soft Matter ; 46(12): 120, 2023 Dec 06.
Article En | MEDLINE | ID: mdl-38055142

The present study investigates the complex topological characteristics of DNA networks, with a specific emphasis on the innovative metric known as Connection Number (CN) as a key factor in determining network structure. The Connection Number, represented as CN(v) for a vertex v, measures the count of unique paths that link v to every other vertex in the network. By employing rigorous mathematical modeling and analysis techniques, we are able to reveal the profound implications of CN (complex networks) in characterizing the structural robustness and dynamics of information flow within DNA networks. The study of how the theory of graphs and chemicals interact is known as chemical graph theory. This paper, computing the hyper Zagreb connection index, augmented connection index, inverse sum connection index, harmonic connection index, symmetric division connection index, geometric arithmetic connection index, and atom bond connectivity connection index, of two significant types of backbone DNA and Barycentric subdivision of backbone DNA networks. Direct method computation is used to produce these Connection-based topological descriptors.


DNA
18.
R Soc Open Sci ; 10(12): 231157, 2023 Dec.
Article En | MEDLINE | ID: mdl-38094268

The present study was aimed at synthesis of polymeric hydrogels for controlled boron (B) release, as B deficiency is a major factor that decreases crops yield. Thus, graphene oxide incorporated guar gum and poly (ethylene glycol) hydrogels were prepared using the Solution Casting method for boron release. 3-Glycidyloxypropyl trimethoxysilane (GLYMOL) was used as a cross-linker. Characterizations of hydrogels were carried out by Fourier Transform Infrared Spectroscopy (FTIR), Thermo-Gravimetric Analysis and Scanning Electron scope. The FTIR outcomes confirmed the existence of functional groups, bindings and development of hydrogel frameworks from incorporated components. The quantity of GLYMOL directly increased the thermal stability and water retention but decreased the swelling %. The maximum swelling for the hydrogel formulations was observed at pH 7. The addition of GLYMOL changed the diffusion from quasi-Fickcian to non-Fickcian diffusion. The maximum swelling quantities of 3822% and 3342% were exhibited by GPP (control) and GPP-8 in distilled water, respectively. Boron release was determined in distilled water and sandy soil by azomethine-H test using UV-Visible spectrophotometer while 85.11% and 73.65% boron was released from BGPP-16, respectively. In short, water retentive, water holding capacities, swelling performances, biodegradability and swelling/deswelling features would offer an ideal platform for boron release in sustained agricultural applications.

19.
Nat Prod Res ; : 1-7, 2023 Nov 11.
Article En | MEDLINE | ID: mdl-37950664

Natural products have become the main focus of mankind due to increasing environmental pollution. The current study was concerned with brinjal plant residues as a source of bio colourant for cotton dyeing. Various media have been employed for the extraction of colourant. Present studies illustrated that excellent colourant yield was obtained in 4% acidified methanol. Cotton fabric was dyed at 50 °C, for 55 min and showed optimised dyeing conditions. Varying chemicals and bio-mordants have been used to achieve elegant shade. Chemical mordanting results revealed that 2% FeSO4as pre-mordant, and 6% TA as post-mordant while in bio- mordanting, 8% of pomegranate peel extract as pre-mordant and 2% pomegranate peel extract as post-mordant indicated a darker shade to mordanted fabrics. Bio-mordanting gave darker shade, and fastness which revealed that bio-mordants have improved the fastness characteristics. FTIR results revealed the confirmation of flavonoids as a colourant for cotton dyeing.

20.
Genome Med ; 15(1): 81, 2023 10 07.
Article En | MEDLINE | ID: mdl-37805537

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored. Here, we describe the first genomic data release from the BARAKA-Qatar Study-a nationwide program building a broadly consented biorepository of individuals with ASD and their families available for sample and data sharing and multi-omics research. METHODS: In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-nucleotide variants (SNVs), copy number variants (CNVs), tandem repeat expansions (TREs), as well as mitochondrial DNA variants (mtDNA) segregating with ASD in local families. RESULTS: Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on American College of Medical Genetics (ACMG) guidelines. Dominant variants, including de novo and inherited, contributed to 15 (55.6%) of these families, consisting of SNVs/indels (66.7%), CNVs (13.3%), TREs (13.3%), and mtDNA variants (6.7%). Moreover, homozygous variants were found in 7 families (25.9%), with a sixfold increase in homozygous burden in consanguineous versus non-consanguineous families (13.6% and 1.8%, respectively). Furthermore, 28 novel ASD candidate genes were identified in 20 families, 23 of which had recurrent hits in MSSNG and SSC cohorts. CONCLUSIONS: This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.


Autism Spectrum Disorder , Child , Humans , Autism Spectrum Disorder/epidemiology , Autism Spectrum Disorder/genetics , Qatar/epidemiology , Genome , DNA Copy Number Variations , Genomics , DNA, Mitochondrial , Genetic Predisposition to Disease
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