Search results for: whole genome diversity

Authors: Agostinho Antunes

Abstract:

The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.

Keywords: marine genomics, evolutionary bioinformatics, human genome sequencing, genomic analyses

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Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

Abstract:

Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: Manihot esculenta Crantz, plant architecture, DArtseq, SNP markers, genome-wide association study

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Authors: Kgaugelo Lekota, Ayesha Hassim, Henriette Van Heerden

Abstract:

Bacillus anthracis is the causative agent of anthrax that is composed of three genetic groups, namely A, B, and C. Clade-A is distributed world-wide, while sub-clades B has been identified in Kruger National Park (KNP), South Africa. KNP is one of the endemic anthrax regions in South Africa with distinctive genetic diversity. Genomic surveillance of KNP B. anthracis strains was employed on the historical culture collection isolates (n=67) dated from the 1990’s to 2015 using a whole genome sequencing approach. Whole genome single nucleotide polymorphism (SNPs) and pan-genomics analysis were used to define the B. anthracis genetic population structure. This study showed that KNP has heterologous B. anthracis strains grouping in the A-clade with more prominent ABr.005/006 (Ancient A) SNP lineage. The 2012 and 2015 anthrax isolates are dispersed amongst minor sub-clades that prevail in non-stabilized genetic evolution strains. This was augmented with non-parsimony informative SNPs of the B. anthracis strains across minor sub-clades of the Ancient A clade. Pan-genomics of B. anthracis showed a clear distinction between A and B-clade genomes with 11 374 predicted clusters of protein coding genes. Unique accessory genes of B-clade genomes that included biosynthetic cell wall genes and multidrug resistant of Fosfomycin. South Africa consists of diverse B. anthracis strains with unique defined SNPs. The sequenced B. anthracis strains in this study will serve as a means to further trace the dissemination of B. anthracis outbreaks globally and especially in South Africa.

Keywords: bacillus anthracis, whole genome single nucleotide polymorphisms, pangenomics, kruger national park

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Authors: Debora Gottardello, Mireia Valverde Aparicio, Juan Llopis Taverner

Abstract:

Globalization has given rise to a great diversity in the composition of people in organizations. Diversity management is therefore key to create growth in today’s competitive global marketplace. This work develops a literature review related to the existing models for managing diversity covering the period from 1980 until 2014. Furthermore, it identifies limitations in previous models. More specifically, the literature review reveals that there is a lack of information about how these models can be adapted from the headquarters to the subsidiaries. Therefore, the contribution of this paper is to suggest how the models should be adapted when they are directed to host countries. Our aim is to highlight the limitations of the developed models with regards to the translation of the diversity management practices to the subsidiaries. Accordingly, a model that will enable MNCs to ensure a global strategy is suggested. Taking advantage of the potential incorporated in a culturally diverse work team should be at the top of every international company’s aims. Executives from headquarters need to use different attitudes when transferring diversity practices towards their subsidiaries. Further studies should reassess local practices of diversity management to find out how this universal management model is translated.

Keywords: culture diversity, diversity management, human resources management, MNCs, subsidiaries, workforce diversity

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Authors: P. Pasomboon, P. Chumnanpuen, T. E-kobon

Abstract:

Hyaluronic acid (HA) consists of linear heteropolysaccharides repeat of D-glucuronic acid and N-acetyl-D-glucosamine. HA has various useful properties to maintain skin elasticity and moisture, reduce inflammation, and lubricate the movement of various body parts without causing immunogenic allergy. HA can be found in several animal tissues as well as in the capsule component of some bacteria including Pasteurella multocida. This study aimed to modify a genome-scale metabolic model of Escherichia coli using computational simulation and flux analysis methods to predict HA productivity under different carbon sources and nitrogen supplement by the addition of two enzymes (GLMU2 and HYAD) from P. multocida to improve the HA production under the specified amount of carbon sources and nitrogen supplements. Result revealed that threonine and aspartate supplement raised the HA production by 12.186%. Our analyses proposed the genome-scale metabolic model is useful for improving the HA production and narrows the number of conditions to be tested further.

Keywords: Pasteurella multocida, Escherichia coli, hyaluronic acid, genome-scale metabolic model, bioinformatics

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Authors: Fatimazahrae Elbakri, Azeddine Ibrahimi, Meryem Lemrani, Dris Belghyti

Abstract:

Leishmaniasis represents a major public health problem because of the number of cases recorded each year and the wide distribution of the disease. It is a parasitic disease of flagellated protozoa transmitted by the bite of certain species of sandfly, causing a spectrum of clinical pathology in humans ranging from disfiguring skin lesions to fatal visceral leishmaniasis. Cutaneous leishmaniasis due to Leishmania major is a polymorphic disease; in fact, the infection can be asymptomatic, localized, or disseminated. The objective of this work is to determine the genomic diversity that contributes to clinical variability by trying to identify the variation in chromosome number and to extract SNPs and SNPs and InDels; it is based on four sequences (WGS) of Leishmania major available on NCBI in Fastq form, from three countries: Tunisia, Algeria, and Israel, the analysis is set up from a pipeline to facilitate the discovery of genetic diversity, in particular SNP and chromosomal somy.

Keywords: Leshmania major, cutaneous Leishmania, NGS, genomic, somy, variant calling

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Authors: Soni Ariawan

Abstract:

The study aims to explore the cultural diversity highlighted in EFL textbook for Senior High School grade 10 in Indonesia. The visual images are selected as the data and qualitatively analysed using content analysis. The reason to choose visual images because images are not always neutral and they might impact teaching and learning process. In the current study, cultural diversity aspects are focused on religion (Muslim, Protestant, Catholic, Hindu, Buddhist, Confucian), gender (male, female, unclear), ethnic (Melanesian, Austronesian, Foreigner) and socioeconomic (low, middle, high, undetermined) diversity as the theoretical framework. The four aspects of cultural diversity are sufficiently representative to draw a conclusion in investigating Indonesian culture representation in EFL textbook. The finding shows that cultural diversity is not proportionally reflected in the textbook, particularly in the visual images.

Keywords: EFL textbook, cultural diversity, visual images, Indonesia

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Authors: Martynova Alina, Lyubov Buzoleva

Abstract:

Streptococcus pneumoniae is the causative agent of pneumonias and meningitids throught all the world. Having high genetic diversity, this microorganism can cause different clinical forms of pneumococcal infections and microbiologically it is really difficult diagnosed by routine methods. Also, epidemiological surveillance requires more developed methods of molecular typing because the recent method of serotyping doesn't allow to distinguish invasive and non-invasive isolates properly. Non-coding genome of bacteria seems to be the interesting source for seeking of highly distinguishable markers to discriminate the subspecies of such a variable bacteria as Streptococcus pneumoniae. Technically, we proposed scheme of discrimination of S.pneumoniae strains with amplification of non-coding region (SP_1932) with the following restriction with 2 types of enzymes of Alu1 and Mn1. Aim: This research aimed to compare different methods of typing and their application for molecular epidemiology purposes. Methods: we analyzed population of 100 strains of S.pneumoniae isolated from different patients by different molecular epidemiology methods such as pulse-field gel electophoresis (PFGE), restriction polymorphism analysis (RFLP) and multilolocus sequence typing (MLST), and all of them were compared with classic typing method as serotyping. The discriminative power was estimated with Simpson Index (SI). Results: We revealed that the most discriminative typing method is RFLP (SI=0,97, there were distinguished 42 genotypes).PFGE was slightly less discriminative (SI=0,95, we identified 35 genotypes). MLST is still the best reference method (SI=1.0). Classic method of serotyping showed quite weak discriminative power (SI=0,93, 24 genotypes). In addition, sensivity of RFLP was 100%, specificity was 97,09%. Conclusion: the most appropriate method for routine epidemiology surveillance is RFLP with non-coding region of Streptococcsu pneumoniae, then PFGE, though in some cases these results should be obligatory confirmed by MLST.

Keywords: molecular epidemiology typing, non-coding genome, Streptococcus pneumoniae, MLST

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Authors: Anny Lucrece Nlend Nkott, Ludovic Temple

Abstract:

The appearance in 2012 of the CRISPR-CaS9 genome editing technique marks a turning point in the field of genetics. This technique would make it possible to create new varieties quickly and cheaply. Although some consider CRISPR-CaS9 to be revolutionary, others consider it a potential societal threat. To document the controversy, we explain the socioeconomic conditions under which this technique could be accepted for the creation of a rainfed rice variety in Madagascar. The methodological framework is based on 38 individual and semistructured interviews, a multistakeholder forum with 27 participants, and a survey of 148 rice producers. Results reveal that the acceptability of genome editing requires (i) strengthening the seed system through the operationalization of regulatory structures and the upgrading of stakeholders' knowledge of genetically modified organisms, (ii) assessing the effects of the edited variety on biodiversity and soil nitrogen dynamics, and (iii) strengthening the technical and human capacities of the biosafety body. Structural mechanisms for regulating the seed system are necessary to ensure safe experimentation of genome editing techniques. Organizational innovation also appears to be necessary. The study documents how collective learning between communities of scientists and nonscientists is a component of systemic processes of varietal innovation. This study was carried out with the financial support of the GENERICE project (Generation and Deployment of Genome-Edited, Nitrogen-use-Efficient Rice Varieties), funded by the Agropolis Foundation.

Keywords: CRISPR-CaS9, varietal innovation, seed system, innovation system

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Authors: Robin C. Ladwig

Abstract:

Diversity Management, as a substantial element of Human Resource Management, aims to secure the economic benefit that assumingly comes with a diverse workforce. Consequently, diversity managers focus on the protection of employees and securing equality measurements to assure organisational gender diversity. Gender diversity as one aspect of Diversity Management seems to adhere to gender binarism and cis-normativity. Workplaces are gendered spaces which are echoing the binary gender-normativity presented in Diversity Management, sold under the label of gender diversity. While the expectation of Diversity Management implies the inclusion of a multiplicity of marginalised groups, such as trans and gender diverse people, in current literature and practice, the reality is curated by gender binarism and cis-normativity. The qualitative multi-method research showed a lack of knowledge about trans and gender diverse matters within the profession of Diversity Management and Human Resources. The semi-structured interviews with trans and gender diverse individuals from various backgrounds and occupations in Australia exposed missing considerations of trans and gender diverse experiences in the inclusivity and gender equity of various workplaces. Even if practitioners consider trans and gender diverse matters under gender diversity, the practical execution is limited to gender binary structures and cis-normative actions as the photo-elicit questionnaire with diversity managers, human resource officers, and personnel management demonstrates. Diversity Management should approach a broader source of informed practice by extending their business focus to the knowledge of humanity studies. Humanity studies could include diversity, queer, or gender studies to increase the inclusivity of marginalised groups such as trans and gender diverse employees and people. Furthermore, the definition of gender diversity should be extended beyond the gender binary and cis-normative experience. People may lose trust in Diversity Management as a supportive ally of marginalised employees if the understanding of inclusivity is limited to a gender binary and cis-normativity value system that misrepresents the richness of gender diversity.

Keywords: cis-normativity, diversity management, gender binarism, trans and gender diversity

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Authors: Nermin Gozukirmizi, Buket Cakmak, Sevgi Marakli

Abstract:

Sireviruses are genera of copia LTR retrotransposons with a unique genome structure among retrotransposons. Barley (Hordeum vulgare L.) is an economically important plant and has been studied as a model plant regarding its short annual life cycle and seven chromosome pairs. In this study, we used mature barley embryos, 10-day-old roots and 10-day-old leaves derived from the same barley plant to investigate SIRE1 retrotransposon movements by Inter-Retrotransposon Amplified Polymorphism (IRAP) technique. We found polymorphism rates between 0-64% among embryos, roots and leaves. Polymorphism rates were detected to be 0-27% among embryos, 8-60% among roots, and 11-50% among leaves. Polymorphisms were observed not only among the parts of different individuals, but also on the parts of the same plant (23-64%). The internal domains of SIRE1 (gag, env and rt) were also analyzed in the embryos, roots and leaves. Analysis of band profiles showed no polymorphism for gag, however, different band patterns were observed among samples for rt and env. The sequencing of SIRE1 gag, env and rt domains revealed 79% similarity for gag, 95% for env and 84% for rt to Ty1-copia retrotransposons. SIRE1 retrotransposon was identified in the soybean genome and has been studied on other plants (maize, rice, tomatoe etc.). This study is the first detailed investigation of SIRE1 in barley genome. The obtained findings are expected to contribute to the comprehension of SIRE1 retrotransposon and its role in barley genome.

Keywords: barley, polymorphism, retrotransposon, SIRE1 virus

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Authors: Houxiang Zhu, Chun Liang

Abstract:

The CRISPR-Cpf1 system has been successfully applied in genome editing. However, target efficiency of the CRISPR-Cpf1 system varies among different gRNA sequences. The published CRISPR-Cpf1 gRNA data was reanalyzed. Many sequences and structural features of gRNAs (e.g., the position-specific nucleotide composition, position-nonspecific nucleotide composition, GC content, minimum free energy, and melting temperature) correlated with target efficiency were found. Using machine learning technology, a support vector machine (SVM) model was created to predict target efficiency for any given gRNAs. The first web service application, CRISPR-DT (CRISPR DNA Targeting), has been developed to help users design optimal gRNAs for the CRISPR-Cpf1 system by considering both target efficiency and specificity. CRISPR-DT will empower researchers in genome editing.

Keywords: CRISPR-Cpf1, genome editing, target efficiency, target specificity

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Authors: Vishnu Pratap Singh Kirar, Madhuri Saxena

Abstract:

Advancement in sequence data generation technologies is churning out voluminous omics data and posing a massive challenge to annotate the biological functional features. With so much data available, the use of machine learning methods and tools to make novel inferences has become obvious. Machine learning methods have been successfully applied to a lot of disciplines, including computational biology and bioinformatics. Researchers in computational biology are interested to develop novel machine learning frameworks to classify the huge amounts of biological data. In this proposal, it plan to employ novel machine learning approaches to aid the understanding of how apparently innocuous mutations (in intergenic DNA and at synonymous sites) cause diseases. We are also interested in discovering novel functional sites in the genome and mutations in which can affect a phenotype of interest.

Keywords: genome wide association studies (GWAS), next generation sequencing (NGS), deep learning, omics

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Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

Abstract:

Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: manihot esculenta crantz, plant architecture, dartseq, snp markers, genome-wide association study

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

Abstract:

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: Ahmed Mahmoud Ahmed Abouelmagd

Abstract:

The diversity is the usual remedy of the transmitted signal level variations (Fading phenomena) in radio frequency channels. Diversity techniques utilize two or more copies of a signal and combine those signals to combat fading. The basic concept of diversity is to transmit the signal via several independent diversity branches to get independent signal replicas via time – frequency - space - and polarization diversity domains. Coding and decoding processes can be an alternative remedy for fading phenomena, it cannot increase the channel capacity, but it can improve the error performance. In this paper we propose the use of replication decoding with BCH code class, and Viterbi decoding algorithm with convolution coding; as examples of coding and decoding processes. The results are compared to those obtained from two optimized selection space diversity techniques. The performance of Rayleigh fading channel, as the model considered for radio frequency channels, is evaluated for each case. The evaluation results show that the coding and decoding approaches, especially the BCH coding approach with replication decoding scheme, give better performance compared to that of selection space diversity optimization approaches. Also, an approach for combining the coding and decoding diversity as well as the space diversity is considered, the main disadvantage of this approach is its complexity but it yields good performance results.

Keywords: Rayleigh fading, diversity, BCH codes, Replication decoding, ‎convolution coding, viterbi decoding, space diversity

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

Abstract:

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: Rabia Faridi, Rizwana Maqbool, Umara Sahar Rana, Zaheer Ahmad

Abstract:

Climate change impacts agriculture, notably in Germany, where spring faba beans predominate. However, improved winter hardiness aligns with milder winters, enabling autumn-sown varieties. Genetic resistance to Ascochyta blight is vital for crop integration. Traditional breeding faces challenges due to complex inheritance. This study assessed 224 homozygous faba bean lines for Ascochyta resistance traits. To achieve h²>70%, 12 replicates were required (realized h²=87%). Genetic variation and strong trait correlations were observed. Five lines outperformed 29H, while three were highly susceptible. A genome-wide association study (GWAS) with 188 inbred lines and 2058 markers, including 17 guide SNP markers, identified 12 markers associated with resistance traits, potentially indicating new resistance genes. One guide marker (Vf-Mt1g014230-001) on chromosome III validated a known QTL. The guided marker approach complemented GWAS, facilitating marker-assisted selection for Ascochyta resistance. The Göttingen Winter Bean Population offers promise for resistance breeding.

Keywords: genome wide association studies, marker assisted breeding, faba bean, ascochyta blight

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Authors: Mehdi Mohebodini, Iman Khalili-Baseri, Mehdi Behnamian, Sara Dezhsetan

Abstract:

Diversity analysis at the molecular level using PCR-based markers is the efficient and rapid method of identifying the relationships and differences among the genotypes. In the present study, genetic diversity and relationships among 20 collected purslane accessions were evaluated using ISSR markers. The genotyping data were used to understand the relationships among the collected accessions and identify genetically diverse purslane accessions. The 25 primers gave a total of 92 bands, of which 62 were polymorphic (67.4%). The genetic diversity as estimated by Shannon’s information index was 0.55, revealing a quite high level of genetic diversity in the germplasm. The average number of an observed allele, effective allele, polymorphic information content (PIC) and Nei’s index were 2, 1.65, 0.37 and 0.37, respectively.

Keywords: Portulaca oleracea L., genetic diversity, ISSR, germplasm

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Authors: Yina A. Cifuentes Triana, Andrés M. Pinzón Velásco, Marío E. Velásquez Lozano

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In this work the sequencing and genome characterization of a natural isolate of Saccharomyces cerevisiae yeast (strain 202-3), identified with potential for the production of second generation ethanol from sugarcane bagasse hydrolysates is presented. This strain was selected because its capability to consume xylose during the fermentation of sugarcane bagasse hydrolysates, taking into account that many strains of S. cerevisiae are incapable of processing this sugar. This advantage and other prominent positive aspects during fermentation profiles evaluated in bagasse hydrolysates made the strain 202-3 a candidate strain to improve the production of second-generation ethanol, which was proposed as a first step to study the strain at the genomic level. The molecular characterization was carried out by genome sequencing with the Illumina HiSeq 2000 platform paired end; the assembly was performed with different programs, finally choosing the assembler ABYSS with kmer 89. Gene prediction was developed with the approach of hidden Markov models with Augustus. The genes identified were scored based on similarity with public databases of nucleotide and protein. Records were organized from ontological functions at different hierarchical levels, which identified central metabolic functions and roles of the S. cerevisiae strain 202-3, highlighting the presence of four possible new proteins, two of them probably associated with the positive consumption of xylose.

Keywords: cellulosic ethanol, Saccharomyces cerevisiae, genome sequencing, xylose consumption

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Authors: Zohar Manber, Ran Elkon

Abstract:

Accumulation of somatic mutations (SMs) in the genome is a major driving force of cancer development. Most SMs in the tumor's genome are functionally neutral; however, some cause damage to critical processes and provide the tumor with a selective growth advantage (termed cancer driver mutations). Current research on functional significance of SMs is mainly focused on finding alterations in protein coding sequences. However, the exome comprises only 3% of the human genome, and thus, SMs in the noncoding genome significantly outnumber those that map to protein-coding regions. Although our understanding of noncoding driver SMs is very rudimentary, it is likely that disruption of regulatory elements in the genome is an important, yet largely underexplored mechanism by which somatic mutations contribute to cancer development. The expression of most human genes is controlled by multiple enhancers, and therefore, it is conceivable that regulatory SMs are distributed across different enhancers of the same target gene. Yet, to date, most statistical searches for regulatory SMs have considered each regulatory element individually, which may reduce statistical power. The first challenge in considering the cumulative activity of all the enhancers of a gene as a single unit is to map enhancers to their target promoters. Such mapping defines for each gene its set of regulating enhancers (termed "set of regulatory elements" (SRE)). Considering multiple enhancers of each gene as one unit holds great promise for enhancing the identification of driver regulatory SMs. However, the success of this approach is greatly dependent on the availability of comprehensive and accurate enhancer-promoter (E-P) maps. To date, the discovery of driver regulatory SMs has been hindered by insufficient sample sizes and statistical analyses that often considered each regulatory element separately. In this study, we analyzed more than 2,500 whole-genome sequence (WGS) samples provided by The Cancer Genome Atlas (TCGA) and The International Cancer Genome Consortium (ICGC) in order to identify such driver regulatory SMs. Our analyses took into account the combinatorial aspect of gene regulation by considering all the enhancers that control the same target gene as one unit, based on E-P maps from three genomics resources. The identification of candidate driver noncoding SMs is based on their recurrence. We searched for SREs of genes that are "hotspots" for SMs (that is, they accumulate SMs at a significantly elevated rate). To test the statistical significance of recurrence of SMs within a gene's SRE, we used both global and local background mutation rates. Using this approach, we detected - in seven different cancer types - numerous "hotspots" for SMs. To support the functional significance of these recurrent noncoding SMs, we further examined their association with the expression level of their target gene (using gene expression data provided by the ICGC and TCGA for samples that were also analyzed by WGS).

Keywords: cancer genomics, enhancers, noncoding genome, regulatory elements

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Authors: Neelma Ashraf

Abstract:

Actinomycetes, particularly genus Streptomyces is of great importance due to their role in the discovery of new natural products, particularly antimicrobial secondary metabolites in the medicinal science and biotechnology industry. Different Streptomyces strains were isolated from Helianthus annuus plants and tested for antibacterial and antifungal activities. The most promising five strains were chosen for further investigation, and growth conditions for antibiotic synthesis were optimised. The supernatants were extracted in different solvents, and the extracted products were analyzed using liquid chromatography-mass spectrometry (LC-MS) and biological testing. From one of the potent strains Streptomyces globusus sp. BR123, a compound lavendamycin was identified using these analytical techniques. In addition, this potent strain also produces a strong antifungal polyene compound with a quasimolecular ion of 2072. Streptomyces sp. BR123 was genome sequenced because of its promising antimicrobial potential in order to identify the gene cluster responsible for analyzed compound “lavendamycin”. The genome analysis yielded candidate genes responsible for the production of this potent compound. The genome sequence of 8.15 Mb of Streptomyces sp. isolate BR123 with a GC content of 72.63% and 8103 protein coding genes was attained. Many antimicrobial, antiparasitic, and anticancerous compounds were detected through multiple biosynthetic gene clusters predicted by in-Silico analysis. Though, the novelty of metabolites was determined through the insignificant resemblance with known biosynthetic gene clusters. The current study gives insight into the bioactive potential of Streptomyces sp. isolate BR123 with respect to the synthesis of bioactive secondary metabolites through genomic and spectrometric analysis. Moreover, the comparative genome study revealed the connection of isolate BR123 with other Streptomyces strains, which could expand the knowledge of this genus and the mechanism involved in the discovery of new antimicrobial metabolites.

Keywords: streptomyces, secondary metabolites, genome, biosynthetic gene clusters, high performance liquid chromatography, mass spectrometry

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Authors: Iman Farasat, Howard M. Salis

Abstract:

The CRISPR/Cas9 system has revolutionized genome engineering by enabling site-directed and high-throughput genome editing, genome insertion, and gene knockdowns in several species, including bacteria, yeast, flies, worms, and human cell lines. This technology has the potential to enable human gene therapy to treat genetic diseases and cancer at the molecular level; however, the current CRISPR/Cas9 system suffers from seemingly sporadic off-target genome mutagenesis that prevents its use in gene therapy. A comprehensive mechanistic model that explains how the CRISPR/Cas9 functions would enable the rational design of the guide-RNAs responsible for target site selection while minimizing unexpected genome mutagenesis. Here, we present the first quantitative model of the CRISPR/Cas9 genome mutagenesis system that predicts how guide-RNA sequences (crRNAs) control target site selection and cleavage activity. We used statistical thermodynamics and law of mass action to develop a five-step biophysical model of cas9 cleavage, and examined it in vivo and in vitro. To predict a crRNA's binding specificities and cleavage rates, we then compiled a nearest neighbor (NN) energy model that accounts for all possible base pairings and mismatches between the crRNA and the possible genomic DNA sites. These calculations correctly predicted crRNA specificity across 5518 sites. Our analysis reveals that cas9 activity and specificity are anti-correlated, and, the trade-off between them is the determining factor in performing an RNA-mediated cleavage with minimal off-targets. To find an optimal solution, we first created a scheme of safe-design criteria for Cas9 target selection by systematic analysis of available high throughput measurements. We then used our biophysical model to determine the optimal Cas9 expression levels and timing that maximizes on-target cleavage and minimizes off-target activity. We successfully applied this approach in bacterial and mammalian cell lines to reduce off-target activity to near background mutagenesis level while maintaining high on-target cleavage rate.

Keywords: biophysical model, CRISPR, Cas9, genome editing

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Authors: M. Suwaibah, S. W. Tan, I. Aiini, K. Yusoff, A. R. Omar

Abstract:

Respiratory diseases are the most important infectious diseases affecting poultry worldwide. One of the avian respiratory virus of global importance causing significant economic losses is Infectious Bronchitis Virus (IBV). The virus causes a wide spectrum disease known as Infectious Bronchitis (IB), affecting not only the respiratory system but also the kidney and the reproductive system, depending on its strain. IB and Newcastle disease are two of the most prevalent diseases affecting poultry in Malaysia. However, a study on the molecular characterization of Malaysian IBV is lacking. In this study, an IBV strain IBS130 which was isolated in 2015 was fully sequenced using next-gene sequencing approach. Sequence analysis of IBS130 based on the complete genome, polyprotein 1ab and S1 genes were compared with other IBV sequences available in Genbank, National Center for Biotechnology Information (NCBI). IBV strain IBS130 is characterised as QX-like strain based on whole genome and S1 gene sequence analysis. Comparisons of the virus with other IBV strains showed that the nucleotide identity ranged from 67% to 99.2%, depending on the region analysed. The similarity in whole genome nucleotide ranging from 84.9% to 90.7% with the least similar was from Singapore strains (84.9%) and highly similar with China QX-like strains. Meanwhile, the similarity in polyprotein 1ab ranging from 85.3% to 89.9% with the least similar to Singapore strains (85.3%) and highly similar with Mass strains from USA.

Keywords: infectious bronchitis virus, phylogenetic analysis, chicken, Malaysia

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Authors: Afsaneh Mohammadnejad, Marianne Nygaard, Jan Baumbach, Shuxia Li, Weilong Li, Jesper Lund, Jacob v. B. Hjelmborg, Lene Christensen, Qihua Tan

Abstract:

Cognitive impairment in the elderly is a key issue affecting the quality of life. Despite a strong genetic background in cognition, only a limited number of single nucleotide polymorphisms (SNPs) have been found. These explain a small proportion of the genetic component of cognitive function, thus leaving a large proportion unaccounted for. We hypothesize that one reason for this missing heritability is the misspecified modeling in data analysis concerning phenotype distribution as well as the relationship between SNP dosage and the phenotype of interest. In an attempt to overcome these issues, we introduced a model-free method based on the generalized correlation coefficient (GCC) in a genome-wide association study (GWAS) of cognitive function in twin samples and compared its performance with two popular linear regression models. The GCC-based GWAS identified two genome-wide significant (P-value < 5e-8) SNPs; rs2904650 near ZDHHC2 on chromosome 8 and rs111256489 near CD6 on chromosome 11. The kinship model also detected two genome-wide significant SNPs, rs112169253 on chromosome 4 and rs17417920 on chromosome 7, whereas no genome-wide significant SNPs were found by the linear mixed model (LME). Compared to the linear models, more meaningful biological pathways like GABA receptor activation, ion channel transport, neuroactive ligand-receptor interaction, and the renin-angiotensin system were found to be enriched by SNPs from GCC. The GCC model outperformed the linear regression models by identifying more genome-wide significant genetic variants and more meaningful biological pathways related to cognitive function. Moreover, GCC-based GWAS was robust in handling genetically related twin samples, which is an important feature in handling genetic confounding in association studies.

Keywords: cognition, generalized correlation coefficient, GWAS, twins

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Authors: Surabhi Maiti, Prajakta Tamhankar, Prachi Uttam Mehta

Abstract:

Since the accomplishment of the Human Genome Project, there has been an unparalled escalation in the sequencing of genomic data. This project has been the first major vault in the field of medical research, especially in genomics. This project won accolades by using a concept called Bigdata which was earlier, extensively used to gain value for business. Bigdata makes use of data sets which are generally in the form of files of size terabytes, petabytes, or exabytes and these data sets were traditionally used and managed using excel sheets and RDBMS. The voluminous data made the process tedious and time consuming and hence a stronger framework called Hadoop was introduced in the field of genetic sciences to make data processing faster and efficient. This paper focuses on using SPARK which is gaining momentum with the advancement of BigData technologies. Cloud Storage is an effective medium for storage of large data sets which is generated from the genetic research and the resultant sets produced from SPARK analysis.

Keywords: human genome project, Bigdata, genomic data, SPARK, cloud storage, Hadoop

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Authors: Borys Stegniy, Anton Gerilovych, Oleksii Solodiankin, Vitaliy Bolotin, Anton Stegniy, Denys Muzyka, Claudio Afonso

Abstract:

New APMV was isolated from white fronted goose in Ukraine. This isolate was tested serologically using monoclonal antibodies in haemagglutination-inhibition tests against APMV1-9. As the results obtained isolate showed cross reactions with APMV7. Following investigations were provided for the full genome sequencing using random primers and cloning into pCRII-TOPO. Analysis of 100 transformed colonies of E.coli using traditional sequencing gave us possibilities to find only 3 regions, which could identify by BLAST. The first region with the length of 367 bp had 70 % nucleotide sequence identity to the APMV 12 isolate Wigeon/Italy/3920_1/2005 at genome position 2419-2784. Next region (344 bp) had 66 % identity to the same APMV 12 isolate at position 4760-5103. The last region (365 bp) showed 71 % identity to Newcastle disease virus strain M4 at position 12569-12928.

Keywords: APMV, Newcastle disease virus, Ukraine, full genome sequencing

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Authors: Bilal Wajid, Erchin Serpedin

Abstract:

The health industry is aiming towards personalized medicine. If the patient’s genome needs to be sequenced it is important that the entire analysis be completed quickly. This paper explores use of parallel computing to analyze very large sequences. Two cases have been considered. In the first case, the sequence is kept constant and the effect of increasing the number of MPI-based processes is evaluated in terms of execution time, speed and efficiency. In the second case the number of MPI-based processes have been kept constant whereas, the length of the sequence was increased.

Keywords: parallel computing, alignment, genome assembly, alignment

Procedia PDF Downloads 275

Authors: Muhammad Tanveer Altaf, Mehmet Bedir, Waqas Liaqat, Gönül Cömertpay, Volkan Çatalkaya, Celaluddin Barutçular, Nergiz Çoban, Ibrahim Cerit, Muhammad Azhar Nadeem, Tolga Karaköy, Faheem Shehzad Baloch

Abstract:

Food production needs to be almost double by 2050 in order to feed around 9 billion people around the Globe. Plant production mostly relies on fertilizers, which also have one of the main roles in environmental pollution. In addition to this, climatic conditions are unpredictable, and the earth is expected to face severe drought conditions in the future. Therefore, water and fertilizers, especially nitrogen are considered as main constraints for future food security. To face these challenges, developing integrative approaches for germplasm characterization and selecting the resilient genotypes performing under limiting conditions is very crucial for effective breeding to meet the food requirement under climatic change scenarios. This study is part of the European Research Area Network (ERANET) project for the characterization of the diversity panel of 172 sorghum accessions and six hybrids as control cultivars under limiting (+N/-H2O, -N/+H2O) and non-limiting conditions (+N+H2O). This study was planned to characterize the sorghum diversity in relation to resource Use Efficiency (RUE), with special attention on harnessing the interaction between genotype and environment (GxE) from a physiological and agronomic perspective. Experiments were conducted at Adana, a Mediterranean climate, with augmented design, and data on various agronomic and physiological parameters were recorded. Plentiful diversity was observed in the sorghum diversity panel and significant variations were seen among the limiting water and nitrogen conditions in comparison with the control experiment. Potential genotypes with the best performance are identified under limiting conditions. Whole genome resequencing was performed for whole germplasm under investigation for diversity analysis. GWAS analysis will be performed using genotypic and phenotypic data and linked markers will be identified. The results of this study will show the adaptation and improvement of sorghum under climate change conditions for future food security.

Keywords: germplasm, sorghum, drought, nitrogen, resources use efficiency, sequencing

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Authors: J. Congalton, K. Logan, B. Crump

Abstract:

Software is a critical aspect of modern life. However it is costly to develop and industry initiatives have focused on reducing costs and improving the productivity. Increasing, software is being developed in teams, and with greater globalization and migration, the teams are becoming more ethnically diverse. This study investigated whether diversity in terms of ethnicity impacted on the productivity of software development. Project managers of software development teams were interviewed. The study found that while some issues did exist due to language problems, when project managers created an environment of trust and friendliness, diversity made a positive contribution to productivity.

Keywords: diversity, project management, software development, team work

Procedia PDF Downloads 372