Search results for: genome sequence

Authors: Reza Hedayati, Meysam Jahanbakhshi

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Fracture Mechanics is used to predict debonding propagation in adhesive joint between aluminum and composite plates. Three types of loadings and two types of glass-epoxy composite sequences: [0/90]2s and [0/45/-45/90]s are considered for the composite plate and their results are compared. It was seen that generally the cases with stacking sequence of [0/45/-45/90]s have much shorter lives than cases with [0/90]2s. It was also seen that in cases with λ=0 the ends of the debonding front propagates forward more than its middle, while in cases with λ=0.5 or λ=1 it is vice versa. Moreover, regardless of value of λ, the difference between the debonding propagations of the ends and the middle of the debonding front is very close in cases λ=0.5 and λ=1. Another main conclusion was the non-dimensionalized debonding front profile is almost independent of sequence type or the applied load value.

Keywords: fatigue, debonding, Paris law, APDL, adhesive

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Authors: Yunfeng Shan, Xiaoliang Wang, Youjun Zhou

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Whole-genome data from two lungfish species, along with other species, present a valuable opportunity to reassess the longstanding debate regarding the evolutionary relationships among tetrapods, lungfishes, and coelacanths. However, the use of bootstrap support has become outdated for large-scale phylogenomic data. Without robust phylogenetic support, the phylogenetic trees become meaningless. Therefore, it is necessary to re-evaluate the phylogenies of tetrapods, lungfishes, and coelacanths using novel measures of phylogenetic support specifically designed for phylogenomic data, as the previous phylogenies were based on 100% bootstrap support. Our findings consistently provide strong evidence favoring lungfish as the closest living relative of tetrapods. This conclusion is based on high gene support confidence with confidence intervals exceeding 95%, high internode certainty, and high gene concordance factor. The evidence stems from two datasets containing recently deciphered whole genomes of two lungfish species, as well as five previous datasets derived from lungfish transcriptomes. These results yield fresh insights into the three hypotheses regarding the phylogenies of tetrapods, lungfishes, and coelacanths. Importantly, these hypotheses are not mere conjectures but are substantiated by a significant number of genes. Analyzing real biological data further demonstrates that the inclusion of additional taxa diminishes the number of orthologues and leads to more diverse tree topologies. Consequently, gene trees and species trees may not be identical even when whole-genome sequencing data is utilized. However, it is worth noting that many gene trees can accurately reflect the species tree if an appropriate number of taxa, typically ranging from six to ten, are sampled. Therefore, it is crucial to carefully select the number of taxa and an appropriate outgroup while excluding fast-evolving taxa as outgroups to mitigate the adverse effects of long-branch attraction (LBA) and achieve an accurate reconstruction of the species tree. This is particularly important as more whole-genome sequencing data becomes available.

Keywords: gene support confidence (GSC), origin of land vertebrates, coelacanth, two whole genomes of lungfishes, confidence intervals

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Authors: Narin Salehiyan

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The later sequencing of the complete genomes of Mycoplasma genitalium and M. pneumoniae has pulled in significant consideration to the atomic science of mycoplasmas, the littlest self-replicating living beings. It shows up that we are presently much closer to the objective of defining, in atomic terms, the complete apparatus of a self-replicating cell. Comparative genomics based on comparison of the genomic cosmetics of mycoplasmal genomes with those of other microbes, has opened better approaches of looking at the developmental history of the mycoplasmas. There's presently strong hereditary bolster for the speculation that mycoplasmas have advanced as a department of gram-positive microbes by a handle of reductive advancement. Amid this prepare, the mycoplasmas misplaced significant parcels of their ancestors’ chromosomes but held the qualities basic for life. In this way, the mycoplasmal genomes carry a tall rate of preserved qualities, incredibly encouraging quality comment. The critical genome compaction that happened in mycoplasmas was made conceivable by receiving a parasitic mode of life. The supply of supplements from their has clearly empowered mycoplasmas to lose, amid advancement, the qualities for numerous assimilative forms. Amid their advancement and adjustment to a parasitic mode of life, the mycoplasmas have created different hereditary frameworks giving a profoundly plastic set of variable surface proteins to avoid the have safe framework.

Keywords: mycoplasma, plasma, pathogen, genome

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Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: M. I. Tyletc, O. I. Podgornya, T. G. Shaposhnikova, S. V. Shabelnikov, A. G. Mittenberg, M. A. Daugavet

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Ascidiacea is the most numerous class of the Tunicata subtype. These chordates' distinctive feature of the anatomical structure is a tunic consisting of cellulose fibrils, protein molecules, and single cells. The mechanisms of the tunic formation are not known in detail; tunic formation could be used as the model system for studying the interaction of cells with the extracellular matrix. Our model species is the ascidian Styela rustica, which is prevalent in benthic communities of the White Sea. As previously shown, the tunic formation involves morula blood cells, which contain the major 48 kDa protein p48. P48 participation in the tunic formation was proved using antibodies against the protein. The nature of the protein and its function remains unknown. The current research aims to determine the amino acid sequence of p48, as well as to clarify its role in the tunic formation. The peptides that make up the p48 amino acid sequence were determined by mass spectrometry. A search for peptides in protein sequence databases identified sequences homologous to p48 in Styela clava, Styela plicata, and Styela canopus. Based on sequence alignment, their level of similarity was determined as 81-87%. The correspondent sequence of ascidian Styela canopus was used for further analysis. The Styela rustica p48 sequence begins with a signal peptide, which could indicate that the protein is secretory. This is consistent with experimentally obtained data: the contents of morula cells secreted in the tunic matrix. The isoelectric point of p48 is 9.77, which is consistent with the experimental results of acid electrophoresis of morula cell proteins. However, the molecular weight of the amino acid sequence of ascidian Styela canopus is 103 kDa, so p48 of Styela rustica is a shorter homolog. The search for conservative functional domains revealed the presence of two Ca-binding EGF-like domains, thrombospondin (TSP1) and tyrosinase domains. The p48 peptides determined by mass spectrometry fall into the region of the sequence corresponding to the last two domains and have amino acid substitutions as compared to Styela canopus homolog. The tyrosinase domain (pfam00264) is known to be part of the phenoloxidase enzyme, which participates in melanization processes and the immune response. The thrombospondin domain (smart00209) interacts with a wide range of proteins, and is involved in several biological processes, including coagulation, cell adhesion, modulation of intercellular and cell-matrix interactions, angiogenesis, wound healing and tissue remodeling. It can be assumed that the tyrosinase domain in p48 plays the role of the phenoloxidase enzyme, and TSP1 provides a link between the extracellular matrix and cell surface receptors, and may also be responsible for the repair of the tunic. The results obtained are consistent with experimental data on p48. The domain organization of protein suggests that p48 is an enzyme involved in the tunic tunning and is an important regulator of the organization of the extracellular matrix.

Keywords: ascidian, p48, thrombospondin, tyrosinase, tunic, tunning

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Authors: Abul B. M. M. K. Islam, Nuria Lopez-Bigas, Elizaveta V. Benevolenskaya

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RBP2 has shown to be important for cell differentiation control through epigenetic mechanism. The main aim of the present study is genome-wide location analysis of human RBP2 isoforms that differ in a histone-binding domain by ChIPseq. It is conceivable that the larger isoform (LI) of RBP2, which contains a specific H3K4me3 interacting domain, differs from the smaller isoform (SI) in genomic location, may account for the observed diversity in RBP2 function. To distinguish the two RBP2 isoforms, we used the fact that the SI lacks the C-terminal PHD domain and hence used the antibodies detecting both RBP2 isoforms (AI) through a common central domain, and the antibodies detecting only LI but not SI, through a C-terminal PHD domain. Overall our analysis suggests that RBP2 occupies about 77 nucleotides and binds GC rich motifs of active genes, does not bind to centromere, telomere, or enhancer regions, and binding sites are conserved compare to random. A striking difference between the only-SI and only-LI is that a large number of only-SI peaks are located in CpG islands and close to TSS compared to only-LI peaks. Enrichment analysis of the related genes indicates that several oncogenic pathways and metabolic pathways/processes are significantly enriched among only-SI/AI targets, but not LI/only-LI peak’s targets.

Keywords: bioinformatics, cancer, ChIP-seq, KDM5A

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Authors: Shin-Shin Kao, Hsiu-Chunj Pan

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Given a graph G. A cycle of G is a sequence of vertices of G such that the first and the last vertices are the same. A hamiltonian cycle of G is a cycle containing all vertices of G. The graph G is k-ordered (resp. k-ordered hamiltonian) if for any sequence of k distinct vertices of G, there exists a cycle (resp. hamiltonian cycle) in G containing these k vertices in the specified order. Obviously, any cycle in a graph is 1-ordered, 2-ordered and 3-ordered. Thus the study of any graph being k-ordered (resp. k-ordered hamiltonian) always starts with k = 4. Most studies about this topic work on graphs with no real applications. To our knowledge, the chordal ring families were the first one utilized as the underlying topology in interconnection networks and shown to be 4-ordered [1]. Furthermore, based on computer experimental results in [1], it was conjectured that some of them are 4-ordered hamiltonian. In this paper, we intend to give some possible directions in proving the conjecture.

Keywords: Hamiltonian cycle, 4-ordered, Chordal rings, 3-regular

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Authors: Umar Yusuf Batsari

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Let E be a uniformly smooth and uniformly convex real Banach space and C be a nonempty, closed and convex subset of E. Let $V= \{S_i : C\to C, ~i=1, 2, 3\cdots N\}$ be a convex set of relatively nonexpansive mappings containing identity. In this paper, an iterative sequence obtained from CQ algorithm was shown to have strongly converge to a point $\hat{x}$ which is a common fixed point of relatively nonexpansive mappings in V and also solve the system of equilibrium problems in E. The result improve some existing results in the literature.

Keywords: relatively nonexpansive mappings, strong convergence, equilibrium problems, uniformly smooth space, uniformly convex space, convex set, kadec klee property

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Authors: Kesavan Markkandan, Ha Young Park, Seung-Il Yoo, Sin-Gi Park, Junhyung Park

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For genetic identification of crop cultivars, insertions/deletions (InDel) markers have been preferred currently because they are easy to use, PCR based, co-dominant and relatively abundant. However, new InDels need to be developed for genetic studies of new varieties due to the difference of allele frequencies in InDels among the population groups. These new varieties are evolved with low levels of genetic diversity in specific genome loci with high recombination rate. In this study, we described soybean barcode system approach based on InDel makers, each of which is specific to a variation block (VB), where the genomes split by all assumed recombination sites. Firstly, VBs in crop cultivars were mined for transferability to VB-specific InDel markers. Secondly, putative InDels in the VB regions were identified for the development of barcode system by analyzing particular cultivar’s whole genome data. Thirdly, common VB-specific InDels from all cultivars were selected by gel electrophoresis, which were converted as 2D barcode types according to comparing amplicon polymorphisms in the five cultivars to the reference cultivar. Finally, the polymorphism of the selected markers was assessed with other cultivars, and the barcode system that allows a clear distinction among those cultivars is described. The same approach can be applicable for other commercial crops. Hence, VB-based genetic identification not only minimize the molecular markers but also useful for assessing cultivars and for marker-assisted breeding in other crop species.

Keywords: variation block, polymorphism, InDel marker, genetic identification

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Authors: Perdana Rakhmana Putra, Hansen Wijaya, Sri Budiyani, Muhamad Natsir, Alexis badai Samudra

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The Palembang Sub-Basin (PSB) located in southern part of South Sumatera basin (SSB) consist of half-graben complex trending N-S to NW-SE. These geometries are believe as an impact of strike-slip regime developed in Eocene-Oligocene. Generally, most of the wells in this area produced hydrocarbon from late stage of syn-rift sequences called Lower Talang Akar (LTAF) and post-rift sequences called Batu Raja Formation (BRF) and drilled to proved hydrocarbon on structural trap; three-way dip anticline, four-way dip anticline, dissected anticline, and stratigraphy trap; carbonate build-up and stratigraphic pinch out. Only a few wells reached the deeper syn-rift sequences called Lahat Formation (LAF) and Lemat Formation (LEF). The new interpretation of subsurface data was done by the tectonostratigraphy concept and focusing on syn-rift sequence. Base on seismic characteristic on basin centre, it divided into four sequences: pre-rift sequence, rift initiation, maximum rift and late rift. These sequences believed as a new exploration target on PSB mature basin. This paper will demonstrate the paleo depositional setting during Paleogene and exploration play concept of syn-rift sequence in PSB. The main play for this area consists of stratigraphic and structure play, where the stratigraphic play is Eocene-Oligocene sediment consist of LAF sandstone, LEF-Benakat formation, and LAF with pinch-out geometry. The pinch-out, lenses geometry and on-lap features can be seen on the seismic reflector and formed at the time of the syn-rift sequence. The structural play is dominated by a 3 Way Dip play related to reverse fault trap.

Keywords: syn-rift, tectono-stratigraphy, exploration play, basin center play, south sumatera basin

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Authors: Okike Benjamin, E. J. D. Garba

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The protection of sensitive information against unauthorized access or fraudulent changes has been of prime concern throughout the centuries. Modern communication techniques, using computers connected through networks, make all data even more vulnerable to these threats. The researchers in this work propose a new encryption technique to be known as Merged Irregular Transposition Cipher. In this proposed encryption technique, a message to be encrypted will first of all be split into multiple parts depending on the length of the message. After the split, different keywords are chosen to encrypt different parts of the message. After encrypting all parts of the message, the positions of the encrypted message could be swapped to other position thereby making it very difficult to decrypt by any unauthorized user.

Keywords: information security, message splitting, pattern, sequence

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Authors: Samia Elfekih, Wee Tek Tay, Karl Gordon, Paul De Barro

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Invasive species represent an increasing threat to food biosecurity, causing significant economic losses in agricultural systems. An example is the sweet potato whitefly, Bemisia tabaci, which is a complex of morphologically indistinguishable species causing average annual global damage estimated at US$2.4 billion. The Bemisia complex represents an interesting model for evolutionary studies because of their extensive distribution and potential for invasiveness and population expansion. Within this complex, two species, Middle East-Asia Minor 1 (MEAM1) and Mediterranean (MED) have invaded well beyond their home ranges whereas others, such as Indian Ocean (IO) and Australia (AUS), have not. In order to understand why some Bemisia species have become invasive, genome-wide sequence scans were used to estimate population dynamics over time and relate these to climate. The Bayesian Skyline Plot (BSP) method as implemented in BEAST was used to infer the historical effective population size. In order to overcome sampling bias, the populations were combined based on geographical origin. The datasets used for this particular analysis are genome-wide SNPs (single nucleotide polymorphisms) called separately in each of the following groups: Sub-Saharan Africa (Burkina Faso), Europe (Spain, France, Greece and Croatia), USA (Arizona), Mediterranean-Middle East (Israel, Italy), Middle East-Central Asia (Turkmenistan, Iran) and Reunion Island. The non-invasive ‘AUS’ species endemic to Australia was used as an outgroup. The main findings of this study show that the BSP for the Sub-Saharan African MED population is different from that observed in MED populations from the Mediterranean Basin, suggesting evolution under a different set of environmental conditions. For MED, the effective size of the African (Burkina Faso) population showed a rapid expansion ≈250,000-310,000 years ago (YA), preceded by a period of slower growth. The European MED populations (i.e., Spain, France, Croatia, and Greece) showed a single burst of expansion at ≈160,000-200,000 YA. The MEAM1 populations from Israel and Italy and the ones from Iran and Turkmenistan are similar as they both show the earlier expansion at ≈250,000-300,000 YA. The single IO population lacked the latter expansion but had the earlier one. This pattern is shared with the Sub-Saharan African (Burkina Faso) MED, suggesting IO also faced a similar history of environmental change, which seems plausible given their relatively close geographical distributions. In conclusion, populations within the invasive species MED and MEAM1 exhibited signatures of population expansion lacking in non-invasive species (IO and AUS) during the Pleistocene, a geological epoch marked by repeated climatic oscillations with cycles of glacial and interglacial periods. These expansions strongly suggested the potential of some Bemisia species’ genomes to affect their adaptability and invasiveness.

Keywords: whitefly, RADseq, invasive species, SNP, climate change

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Authors: YingWei Tan, XueFeng Ding

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Attention-based voice activity detection models have gained significant attention in recent years due to their fast training speed and ability to capture a wide contextual range. The inclusion of multi-head style and position embedding in the attention architecture are crucial. Having multiple attention heads allows for differential focus on different parts of the sequence, while position embedding provides guidance for modeling dependencies between elements at various positions in the input sequence. In this work, we propose an approach by considering each head as a node, enabling the application of graph neural networks (GNN) to identify correlations among the different nodes. In addition, we adopt an implementation named rotary position embedding (RoPE), which encodes absolute positional information into the input sequence by a rotation matrix, and naturally incorporates explicit relative position information into a self-attention module. We evaluate the effectiveness of our method on a synthetic dataset, and the results demonstrate its superiority over the baseline CRNN in scenarios with low signal-to-noise ratio and noise, while also exhibiting robustness across different noise types. In summary, our proposed framework effectively combines the strengths of CNN and RNN (LSTM), and further enhances detection performance through the integration of graph neural networks and rotary position embedding.

Keywords: voice activity detection, CRNN, graph neural networks, rotary position embedding

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Authors: Nitish Sharma, G. G. Karady

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This paper presents a scheme for the protection of loop system from all type of faults using the direction of fault current. The presence of distributed generation in today’s system increases the complexity of fault detection as the power flow is bidirectional. Hence, protection scheme specific to this purpose needs to be developed. This paper shows a fast protection scheme using communication which can be fiber optic or wireless. In this paper, the possibility of wireless communication for protection is studied to exchange the information between the relays. The negative sequence and positive sequence directional elements are used to determine the direction of fault current. A PSCAD simulation is presented and validated using commercial SEL relays.

Keywords: smart grid protection, pilot protection, power system simulation, wireless communication

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Authors: Ghada Badr, Manar Hosny, Nuha Bintayyash, Eman Albilali, Souad Larabi Marie-Sainte

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The median problem is significantly applied to derive the most reasonable rearrangement phylogenetic tree for many species. More specifically, the problem is concerned with finding a permutation that minimizes the sum of distances between itself and a set of three signed permutations. Genomes with equal number of genes but different order can be represented as permutations. In this paper, an algorithm, namely BeamGA median, is proposed that combines a heuristic search approach (local beam) as an initialization step to generate a number of solutions, and then a Genetic Algorithm (GA) is applied in order to refine the solutions, aiming to achieve a better median with the smallest possible reversal distance from the three original permutations. In this approach, any genome rearrangement distance can be applied. In this paper, we use the reversal distance. To the best of our knowledge, the proposed approach was not applied before for solving the median problem. Our approach considers true biological evolution scenario by applying the concept of common intervals during the GA optimization process. This allows us to imitate a true biological behavior and enhance genetic approach time convergence. We were able to handle permutations with a large number of genes, within an acceptable time performance and with same or better accuracy as compared to existing algorithms.

Keywords: median problem, phylogenetic tree, permutation, genetic algorithm, beam search, genome rearrangement distance

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Weizhi Zhong, Xiaoyi Lu, Lei Xu

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In order to solve the problem of inaccurate synchronization for distributed multiple-input multiple-output (MIMO) system in multipath environment, a golay pair aided timing synchronization method is proposed in this paper. A new synchronous training sequence based on golay pair is designed. By utilizing the aperiodic auto-correlation complementary property of the new training sequence, the fine timing point is obtained at the receiver. Simulation results show that, compared with the tradition timing synchronization approaches, the proposed algorithm can provide high accuracy in synchronization, especially under multipath condition.

Keywords: distributed MIMO system, golay pair, multipath, synchronization

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Authors: Dalia G. Aseel

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The potato (Solanum tubersum, L.) has become one of the major vegetable crops in Egypt and all over the world. Potato leafroll virus(PLRV) was observed on potato plants collected from different governorates in Egypt. Three cultivars, Spunta, Diamont, and Cara, infected with PLRV were collected; RNA was extracted and subjected to Real-Time PCR using the coat protein gene primers. The results showed that the expression of the coat protein was 39.6-fold, 12.45-fold, and 47.43-fold, respectively, for Spunta, Diamont, and Cara cultivars. Differential Display Polymerase Chain Reaction (DD-PCR) using pathogenesis-related protein 1 (PR-1), β-1,3-glucanases (PR-2), chitinase (PR-3), peroxidase (POD), and polyphenol oxidase (PPO) forward primers for pathogenesis-related proteins (PR). The obtained data revealed different banding patterns depending on the viral type and the region of infection. Regarding PLRV, 58 up-regulated and 19 down-regulated genes were detected. Sequence analysis of the up-and down-regulated genes revealed that infected plants were observed in comparison with the healthy control. Sequence analysis of the up-regulated gene was performed, and the encoding sequence analysis showed that the obtained genes include: induced stolen tip protein. On the other hand, two down-regulated genes were identified: disease resistance RPP-like protein and non-specific lipid-transfer protein. In this study, the expressions of PR-1, PR-2, PR-3, POD, and PPO genes in the infected leaves of three potato cultivars were estimated by quantitative real-time PCR. We can conclude that the PLRV-infection of potato plants inhibited the expression of the five PR genes. On the contrary, infected leaves by PLRV elevated the expression of some defense genes. This interaction may also induce and/or suppress the expression of some genes responsible for the plant's defense mechanisms.

Keywords: PLRV, pathogenesis-related proteins (PRs), DD-PCR, sequence, real-time PCR

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Authors: O. H. Gebril, N. A. Meguid

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Background: Iron had been a focus of interest recently as a main exaggerating factor for oxidative stresses in the central nervous system and a link to various neurological disorders is suspected. Many studies with various techniques showed evidence of disturbed iron-related proteins in the cell in human and animal models of neurodegenerative disorders. Also, linkage to significant pathological changes had been evidenced e.g. apoptosis and cell signaling. On the other hand, the role of iron in neurodevelopmental disorders is still unclear. With increasing prevalence of autism worldwide, some changes in iron parameters and its stores were documented in many studies. This study includes Haemochromatosis HFE gene polymorphisms (p.H63D and p.C282Y) and ferroportin gene (SLC40A1) Q248H polymorphism in autism and control children. Materials and Methods: Whole genome DNA was extracted; p.H63D and p.C282Y genotyping was studied using specific sequence amplification followed by restriction enzyme digestion on a sample of autism patients (25 cases) and twenty controls. Results: The p.H63D is seen more than the C282Y among both autism and control samples, with no significant association of p.H63D or p.C282Y polymorphism and autism was revealed. Also, no association with Q248H polymorphism was evidenced. Conclusion: The study results do not prove the role of cellular iron genes polymorphisms as risk factors for neurodevelopmental disorders, and in turn highlights the specificity of cellular iron related pathways in neurodegeneration. These results demand further gene expression studies to elucidate the main pathophysiological pathways that are disturbed in autism and other neurodevelopmental disorders.

Keywords: iron, neurodevelopmental, oxidative stress, haemohromatosis, ferroportin, genes

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Authors: Maxime Merheb, Rachel Matar

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Retrieving ancient DNA sequences which in return permit the entire genome sequencing from fossils have extraordinarily improved in recent years, thanks to sequencing technology and other methodological advances. In any case, the quest to search for ancient DNA is still obstructed by the damage inflicted on DNA which accumulates after the death of a living organism. We can characterize this damage into three main categories: (i) Physical abnormalities such as strand breaks which lead to the presence of short DNA fragments. (ii) Modified bases (mainly cytosine deamination) which cause errors in the sequence due to an incorporation of a false nucleotide during DNA amplification. (iii) DNA modifications referred to as blocking lesions, will halt the PCR extension which in return will also affect the amplification and sequencing process. We can clearly see that the issues arising from breakage and coding errors were significantly decreased in recent years. Fast sequencing of short DNA fragments was empowered by platforms for high-throughput sequencing, most of the coding errors were uncovered to be the consequences of cytosine deamination which can be easily removed from the DNA using enzymatic treatment. The methodology to repair DNA sequences is still in development, it can be basically explained by the process of reintroducing cytosine rather than uracil. This technique is thus restricted to amplified DNA molecules. To eliminate any type of damage (particularly those that block PCR) is a process still pending the complete repair methodologies; DNA detection right after extraction is highly needed. Before using any resources into extensive, unreasonable and uncertain repair techniques, it is vital to distinguish between two possible hypotheses; (i) DNA is none existent to be amplified to begin with therefore completely un-repairable, (ii) the DNA is refractory to PCR and it is worth to be repaired and amplified. Hence, it is extremely important to develop a non-enzymatic technique to detect the most degraded DNA.

Keywords: ancient DNA, DNA barcodong, enzymatic repair, PCR

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Authors: Chen Wang, Jared Evans, Yan Asmann

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With the quick evolvement of next-generation sequencing techniques, whole-exome or exome-panel data have become a cost-effective way for detection of small exonic mutations, but there has been a growing desire to accurately detect copy number variations (CNVs) as well. In order to address this research and clinical needs, we developed a sequencing coverage pattern-based method not only for copy number detections, data integrity checks, CNV calling, and visualization reports. The developed methodologies include complete automation to increase usability, genome content-coverage bias correction, CNV segmentation, data quality reports, and publication quality images. Automatic identification and removal of poor quality outlier samples were made automatically. Multiple experimental batches were routinely detected and further reduced for a clean subset of samples before analysis. Algorithm improvements were also made to improve somatic CNV detection as well as germline CNV detection in trio family. Additionally, a set of utilities was included to facilitate users for producing CNV plots in focused genes of interest. We demonstrate the somatic CNV enhancements by accurately detecting CNVs in whole exome-wide data from the cancer genome atlas cancer samples and a lymphoma case study with paired tumor and normal samples. We also showed our efficient reuses of existing exome sequencing data, for improved germline CNV calling in a family of the trio from the phase-III study of 1000 Genome to detect CNVs with various modes of inheritance. The performance of the developed method is evaluated by comparing CNV calling results with results from other orthogonal copy number platforms. Through our case studies, reuses of exome sequencing data for calling CNVs have several noticeable functionalities, including a better quality control for exome sequencing data, improved joint analysis with single nucleotide variant calls, and novel genomic discovery of under-utilized existing whole exome and custom exome panel data.

Keywords: bioinformatics, computational genetics, copy number variations, data reuse, exome sequencing, next generation sequencing

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Authors: Farzad Hosseini Hossein Abadi, Cristina Prieto Sierra, Cesar Álvarez Díaz

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Predicting streamflow accurately in flashy catchments prone to floods is a major research and operational challenge in hydrological modeling. Recent advancements in deep learning, particularly Long Short-Term Memory (LSTM) networks, have shown to be promising in achieving accurate hydrological predictions at daily and hourly time scales. In this work, a multi-timescale LSTM (MTS-LSTM) network was applied to the context of regional hydrological predictions at an hourly time scale in flashy catchments. The case study includes 40 catchments allocated in the Basque Country, north of Spain. We explore the impact of hyperparameters on the performance of streamflow predictions given by regional deep learning models through systematic hyperparameter tuning - where optimal regional values for different catchments are identified. The results show that predictions are highly accurate, with Nash-Sutcliffe (NSE) and Kling-Gupta (KGE) metrics values as high as 0.98 and 0.97, respectively. A principal component analysis reveals that a hyperparameter related to the length of the input sequence contributes most significantly to the prediction performance. The findings suggest that input sequence lengths have a crucial impact on the model prediction performance. Moreover, employing catchment-scale analysis reveals distinct sequence lengths for individual basins, highlighting the necessity of customizing this hyperparameter based on each catchment’s characteristics. This aligns with well known “uniqueness of the place” paradigm. In prior research, tuning the length of the input sequence of LSTMs has received limited focus in the field of streamflow prediction. Initially it was set to 365 days to capture a full annual water cycle. Later, performing limited systematic hyper-tuning using grid search, revealed a modification to 270 days. However, despite the significance of this hyperparameter in hydrological predictions, usually studies have overlooked its tuning and fixed it to 365 days. This study, employing a simultaneous systematic hyperparameter tuning approach, emphasizes the critical role of input sequence length as an influential hyperparameter in configuring LSTMs for regional streamflow prediction. Proper tuning of this hyperparameter is essential for achieving accurate hourly predictions using deep learning models.

Keywords: LSTMs, streamflow, hyperparameters, hydrology

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Authors: Ahmed Bahieldin, Ahmed Atef, Jamal S. M. Sabir, Nour O. Gadalla, Sherif Edris, Ahmed M. Alzohairy, Nezar A. Radhwan, Mohammed N. Baeshen, Ahmed M. Ramadan, Hala F. Eissa, Sabah M. Hassan, Nabih A. Baeshen, Osama Abuzinadah, Magdy A. Al-Kordy, Fotouh M. El-Domyati, Robert K. Jansen

Abstract:

Wild salt-tolerant barley (Hordeum spontaneum) is the ancestor of cultivated barley (Hordeum vulgare or H. vulgare). Although the cultivated barley genome is well studied, little is known about genome structure and function of its wild ancestor. In the present study, RNA-Seq analysis was performed on young leaves of wild barley treated with salt (500 mM NaCl) at four different time intervals. Transcriptome sequencing yielded 103 to 115 million reads for all replicates of each treatment, corresponding to over 10 billion nucleotides per sample. Of the total reads, between 74.8 and 80.3% could be mapped and 77.4 to 81.7% of the transcripts were found in the H. vulgare unigene database (unigene-mapped). The unmapped wild barley reads for all treatments and replicates were assembled de novo and the resulting contigs were used as a new reference genome. This resultedin94.3 to 95.3%oftheunmapped reads mapping to the new reference. The number of differentially expressed transcripts was 9277, 3861 of which were uni gene-mapped. The annotated unigene- and de novo-mapped transcripts (5100) were utilized to generate expression clusters across time of salt stress treatment. Two-dimensional hierarchical clustering classified differential expression profiles into nine expression clusters, four of which were selected for further analysis. Differentially expressed transcripts were assigned to the main functional categories. The most important groups were ‘response to external stimulus’ and ‘electron-carrier activity’. Highly expressed transcripts are involved in several biological processes, including electron transport and exchanger mechanisms, flavonoid biosynthesis, reactive oxygen species (ROS) scavenging, ethylene production, signaling network and protein refolding. The comparisons demonstrated that mRNA-Seq is an efficient method for the analysis of differentially expressed genes and biological processes under salt stress.

Keywords: electron transport, flavonoid biosynthesis, reactive oxygen species, rnaseq

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Authors: Agampodi Promoda Perera, Yong Shin, Mi Kyoung Park

Abstract:

The successful detection of pathogenic bacteria in blood provides important information for early detection, diagnosis and the prevention and treatment of infectious diseases. Silicon microring resonators are refractive-index-based optical biosensors that provide highly sensitive, label-free, real-time multiplexed detection of biomolecules. We demonstrate the technique of using GO (graphene oxide) to enhance the signal output of the silicon microring optical sensor. The activated carboxylic groups in GO molecules bind directly to single stranded DNA with an amino modified 5’ end. This conjugation amplifies the shift in resonant wavelength in a real-time manner. We designed a capture probe for strain Staphylococcus aureus of 21 bp and a longer complementary target sequence of 70 bp. The mismatched target sequence we used was of Streptococcus agalactiae of 70 bp. GO is added after the complementary binding of the probe and target. GO conjugates to the unbound single stranded segment of the target and increase the wavelength shift on the silicon microring resonator. Furthermore, our results show that GO could successfully differentiate between the mismatched DNA sequences from the complementary DNA sequence. Therefore, the proposed concept could effectively enhance sensitivity of pathogen detection sensors.

Keywords: label free biosensor, pathogenic bacteria, graphene oxide, diagnosis

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Authors: Cristina Lavilla, Andreas Heise

Abstract:

The synthesis of sequence-controlled polymers has received increasing attention in the last years. Well-defined polyacrylates, polyacrylamides and styrene-maleimide copolymers have been synthesized by sequential or kinetic addition of comonomers. However this approach has not yet been introduced to the synthesis of polypeptides, which are in fact polymers developed by nature in a sequence-controlled way. Polypeptides are natural materials that possess the ability to self-assemble into complex and highly ordered structures. Their folding and properties arise from precisely controlled sequences and compositions in their constituent amino acid monomers. So far, solid-phase peptide synthesis is the only technique that allows preparing short peptide sequences with excellent sequence control, but also requires extensive protection/deprotection steps and it is a difficult technique to scale-up. A new strategy towards sequence control in the synthesis of polypeptides is introduced, based on the sequential addition of α-amino acid-N-carboxyanhydrides (NCAs). The living ring-opening process is conducted to full conversion and no purification or deprotection is needed before addition of a new amino acid. The length of every block is predefined by the NCA:initiator ratio in every step. This method yields polypeptides with a specific sequence and controlled molecular weights. A series of polypeptides with varying block sequences have been synthesized with the aim to identify structure-property relationships. All of them are able to adopt secondary structures similar to natural polypeptides, and display properties in the solid state and in solution that are characteristic of the primary structure. By design the prepared polypeptides allow selective modification of individual block sequences, which has been exploited to introduce functionalities in defined positions along the polypeptide chain. Poly(ethylene glycol)(PEG) was the functionality chosen, as it is known to favor hydrophilicity and also yield thermoresponsive materials. After PEGylation, hydrophilicity of the polypeptides is enhanced, and their thermal response in H2O has been studied. Noteworthy differences in the behavior of the polypeptides having different sequences have been found. Circular dichroism measurements confirmed that the α-helical conformation is stable over the examined temperature range (5-90 °C). It is concluded that PEG units are the main responsible of the changes in H-bonding interactions with H2O upon variation of temperature, and the position of these functional units along the backbone is a factor of utmost importance in the resulting properties of the α-helical polypeptides.

Keywords: α-amino acid N-carboxyanhydrides, multiblock copolymers, poly(ethylene glycol), polypeptides, ring-opening polymerization, sequence control

Procedia PDF Downloads 171

Authors: Xu LiYun, Briand Florent, Fan GuoLiang

Abstract:

The loop-layout design problem (LLDP) aims at optimizing the sequence of positioning of the machines around the cyclic production line. Traffic congestion is the usual criteria to minimize in this type of problem, i.e. the number of additional cycles spent by each part in the network until the completion of its required routing sequence of machines. This paper aims at applying several improvements mechanisms such as a positioned-based crossover operator for the Genetic Algorithm (GA) called a Two Points Crossover (TPC) and an offspring selection process. The performance of the improved GA is measured using well-known examples from literature and compared to other evolutionary algorithms. Good results show that GA can still be competitive for this type of problem against more recent evolutionary algorithms.

Keywords: crossover, genetic algorithm, layout design problem, loop-layout, manufacturing optimization

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Authors: Ahmed Sameer, Braj Bhushan

Abstract:

The objective of our study was to compare two techniques (no landmark vs imaginary landmark) of remembering route while traversing in an unfamiliar homogenous environment. We used two videos each having nine identical turns with no landmarks. In the first video participant was required to remember the sequence of turns. In the second video participant was required to imagine a landmark at each turn and associate the turn with it. In both the task the participant was asked to recall the sequence of turns as it appeared in the video. Results showed that performance in the first condition i.e. without use of landmarks was better than imaginary landmark condition. The difference, however, became significant when the participant were tested again about 30 minutes later though performance was still better in no-landmark condition. The finding is surprising given the past research in memory and is explained in terms of cognitive factors such as mental workload.

Keywords: wayfinding, landmarks, unfamiliar environment, cognitive psychology

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Authors: Salam M. H. Kareem

Abstract:

Instructional or teaching procedures and their proper sequence are essential for high-quality learning outcomes. These actions are the path that the teacher takes during the learning process after setting the learning objectives. Teachers and specialists in the education field should include teaching procedures with putting in place an effective mechanism for the procedure’s implementation to achieve a logical sequence with the desired output of overall education process. Determining the sequence of these actions may be a strategic process outlined by a strategic educational plan or drawn by teachers with a high level of experience, enabling them to determine those logical procedures. While specific actions may be necessary for a specific form, many Physical Education (PE) teachers can work out on various sports disciplines. This study was conducted to investigate the impact of using the teaching sequence of the teaching pyramid in raising the level of enjoyment in swimming classes. Four months later of teaching swimming skills to the control and experimental groups of the study, we figured that using the tools shown in the teaching pyramid with the experimental group led to statistically significant differences in the positive tendencies of students to participate in the swimming classes by using the traditional procedures of teaching and using of successive procedures in the teaching pyramid, and in favor of the teaching pyramid, The students are influenced by enhancing their tendency to participate in swimming classes when the teaching procedures followed are sensitive to individual differences and are based on the element of pleasure in learning, and less positive levels of the tendency of students when using traditional teaching procedures, by getting the level of skills' requirements higher and more difficult to perform. The level of positive tendencies of students when using successive procedures in the teaching pyramid was increased, by getting the level of skills' requirements higher and more difficult to perform, because of the high level of motivation and the desire to challenge the self-provided by the teaching pyramid.

Keywords: physical education, swimming classes, teaching process, teaching pyramid

Procedia PDF Downloads 111

Authors: L. Salomon, P. Sklenar

Abstract:

The Andes hold the highest plant species diversity in the world. How this occurred is one of the most intriguing questions in studies addressing the origin and patterning of plant diversity worldwide. Recently, the explosive adaptive radiations found in high Andean groups have been pointed as triggers to this spectacular diversity. The Andes is the species-richest area for the biggest genus from the Asteraceae family: Senecio. There, the genus presents an incredible diversity of species, striking growth form variation, and large niche span. Even when some studies tried to disentangle the evolutionary story for some Andean species in Senecio, they obtained partially resolved and low supported phylogenies, as expected for recently radiated groups. The high-throughput sequencing (HTS) approaches have proved to be a powerful tool answering phylogenetic questions in those groups whose evolutionary stories are recent and traditional techniques like Sanger sequencing are not informative enough. Although these tools have been used to understand the evolution of an increasing number of Andean groups, nowadays, their scope has not been applied for Senecio. This project aims to contribute to a better knowledge of the mechanisms shaping the hyper diversity of Senecio in the Andean region, using HTS focusing on Senecio ser. Culcitium (Asteraceae), recently recircumscribed. Firstly, reconstructing a highly resolved and supported phylogeny, and after assessing the role of allopatric differentiation, hybridization, and genome duplication in the diversification of the group. Using the Hyb-Seq approach, combining target enrichment using Asteraceae COS loci baits and genome skimming, more than 100 new accessions were generated. HybPhyloMaker and HybPiper pipelines were used for the phylogenetic analyses, and another pipeline in development (Paralogue Wizard) was used to deal with paralogues. RAxML was used to generate gene trees and Astral for species tree reconstruction. Phyparts were used to explore as first step of gene tree discordance along the clades. Fully resolved with moderated supported trees were obtained, showing Senecio ser. Culcitium as monophyletic. Within the group, some species formed well-supported clades with morphologically related species, while some species would not have exclusive ancestry, in concordance with previous studies using amplified fragment length polymorphism (AFLP) showing geographical differentiation. Discordance between gene trees was detected. Paralogues were detected for many loci, indicating possible genome duplications; ploidy level estimation using flow cytometry will be carried out during the next months in order to identify the role of this process in the diversification of the group. Likewise, TreeSetViz package for Mesquite, hierarchical likelihood ratio congruence test using Concaterpillar, and Procrustean Approach to Cophylogeny (PACo), will be used to evaluate the congruence among different inheritance patterns. In order to evaluate the influence of hybridization and Incomplete Lineage Sorting (ILS) in each resultant clade from the phylogeny, Joly et al.'s 2009 method in a coalescent scenario and Paterson’s D-statistic will be performed. Even when the main discordance sources between gene trees were not explored in detail yet, the data show that at least to some degree, processes such as genome duplication, hybridization, and/or ILS could be involved in the evolution of the group.

Keywords: adaptive radiations, Andes, genome duplication, hybridization, Senecio

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Authors: Ganesh Nandakumaran, Mehmet Karaata

Abstract:

A wave is a distributed execution, often made up of a broadcast phase followed by a feedback phase, requiring the participation of all the system processes before a particular event called decision is taken. Wave algorithms with one initiator such as the 1-wave algorithm have been shown to be very efficient for broadcasting messages in tree networks. Extensions of this algorithm broadcasting a sequence of waves using a single initiator have been implemented in algorithms such as the m-wave algorithm. However as the network size increases, having a single initiator adversely affects the message delivery times to nodes further away from the initiator. As a remedy, broadcast waves can be allowed to be initiated by multiple initiator nodes distributed across the network to reduce the completion time of broadcasts. These waves initiated by one or more initiator processes form a collection of waves covering the entire network. Solutions to global-snapshots, distributed broadcast and various synchronization problems can be solved efficiently using waves with multiple concurrent initiators. In this paper, we propose the first stabilizing multi-wave sequence algorithm implementing waves started by multiple initiator processes such that every process in the network receives at least one sequence of broadcasts. Due to being stabilizing, the proposed algorithm can withstand transient faults and do not require initialization. We view a fault as a transient fault if it perturbs the configuration of the system but not its program.

Keywords: distributed computing, multi-node broadcast, propagation of information with feedback and cleaning (PFC), stabilization, wave algorithms

Procedia PDF Downloads 471