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Background: Plasmodium falciparum (P. falciparum) remains a significant public health challenge globally, especially in sub-Saharan Africa (SSA), where it accounts for 99% of all malaria infections. The outcomes of P. falciparum infection vary, ranging from asymptomatic to severe, and are associated with factors such as host immunity, parasite genetic diversity, and multiplicity of infection (MOI). Using seven neutral microsatellite markers, the current study investigated P. falciparum genetic diversity and MOI in both asymptomatic and symptomatic malaria individuals in Uganda. Methods: This cross-sectional study analyzed 225 P. falciparum isolates from both asymptomatic and symptomatic malaria patients, ranging in age from 6 months to ≥ 18 years. P. falciparum genetic diversity, MOI, and multi-locus linkage disequilibrium (LD) were assessed through genotyping of seven neutral microsatellite markers: Poly-α, TA1, TA109, PfPK2, 2490, C2M34–313, and C3M69–383. Genetic data analysis was performed using appropriate genetic analysis software. Results: P. falciparum infections exhibited high genetic diversity in both asymptomatic and symptomatic individuals. The mean expected heterozygosity (He) ranged from 0.79 in symptomatic uncomplicated malaria cases to 0.81 in asymptomatic individuals. There was no significant difference (p = 0.33) in MOI between individuals with asymptomatic and symptomatic infections, with the mean MOI ranging from 1.92 in symptomatic complicated cases to 2.10 in asymptomatic individuals. Polyclonal infections were prevalent, varying from 58.5% in symptomatic complicated malaria to 63% in symptomatic uncomplicated malaria cases. A significant linkage disequilibrium (LD) was observed between asymptomatic and symptomatic uncomplicated/complicated infections (p < 0.01). Genetic differentiation was low, with FST values ranging from 0.0034 to 0.0105 among P. falciparum parasite populations in asymptomatic and symptomatic uncomplicated/complicated infections. Conclusion: There is a high level of P. falciparum genetic diversity and MOI among both symptomatic and asymptomatic individuals in Uganda. Asymptomatic carriers harbor a diverse range of parasites, which poses challenges for malaria control and necessitates targeted interventions to develop effective strategies. [ABSTRACT FROM AUTHOR]

【Objective】A major gene and polygenes genetic analysis on the chlorophyll content in the pulp of cheih-qua was conducted to study the relationship and genetic mechanism between pulp color and chlorophyll content, with an aim to lay a foundation for the breeding of high-quality cheih-qua varieties.【Method】In the study, cheih-qua inbred lines J16 (white pulp) and FJ5 (green pulp) were used to form four generation populations, P1, P2, F1 and F2. The pulp color of the chieh-qua was observed by naked eye and the chlorophyll content was measured. The genetic model analysis software package was used to analyze the chlorophyll content of the pulp, and the maximum likelihood function value and AIC value were obtained. Then, the three models with the smallest AIC values were selected as alternate models and the suitability test was carried out. Finally, the first- and second-order genetic parameters of the optimal genetic model were calculated, and the genetic effect values of major genes and polygenes were analyzed.【Result】The results showed that chlorophyll content was the key factor in the formation of green pulp of the chieh-qua. The color and chlorophyll content of the F1 generation were between the parents and slightly inclined to the white pulp parents (P1), and the color and chlorophyll content of the F2 generation showed quantitative characteristics. The optimal genetic model for chlorophyll content in the pulp was MX2-ADI-ADI, that is, 2 pairs of additive - dominant - epistatic major gene + additive - dominant - epistatic polygene models. In the first-order genetic parameters, the sum of absolute additive effects (da +db) of the two major genes was greater than the sum of absolute dominant effects (ha +hb), and da > db, indicated that the negative additive effect of the first major gene was dominant. In epistatic genetic effects, gene additive-additive interactions were the main positive effects. The second-order genetic parameters indicated that the genetic variance of the major gene was 32.1590, the genetic variance of the polygenes was 1.1540, and the heritability rates of the major gene and the polygenes were 93.69% and 3.36%, respectively. 【Conclusion】The heritability of major genes for the pulp color of chieh-qua is much higher than that of polygenes, and the major genes are dominant. Therefore, we should pay attention to the use of major genes in the process of high-quality breeding of chieh-qua, and we can select in early generations and improve chieh-qua by combined breeding. [ABSTRACT FROM AUTHOR]

Background: Pan-virus detection, and virome investigation in general, can be challenging, mainly due to the lack of universally conserved genetic elements in viruses. Metagenomic next-generation sequencing can offer a promising solution to this problem by providing an unbiased overview of the microbial community, enabling detection of any viruses without prior target selection. However, a major challenge in utilising metagenomic next-generation sequencing for virome investigation is that data analysis can be highly complex, involving numerous data processing steps. Results: Here, we present Entourage to address this challenge. Entourage enables short-read sequence assembly, viral sequence search with or without reference virus targets using contig-based approaches, and intrasample sequence variation quantification. Several workflows are implemented in Entourage to facilitate end-to-end virus sequence detection analysis through a single command line, from read cleaning, sequence assembly, to virus sequence searching. The results generated are comprehensive, allowing for thorough quality control, reliability assessment, and interpretation. We illustrate Entourage's utility as a streamlined workflow for virus detection by employing it to comprehensively search for target virus sequences and beyond in raw sequence read data generated from HeLa cell culture samples spiked with viruses. Furthermore, we showcase its flexibility and performance on a real-world dataset by analysing a preassembled Tara Oceans dataset. Overall, our results show that Entourage performs well even with low virus sequencing depth in single digits, and it can be used to discover novel viruses effectively. Additionally, by using sequence data generated from a patient with chronic SARS-CoV-2 infection, we demonstrate Entourage's capability to quantify virus intrasample genetic variations, and generate publication-quality figures illustrating the results. Conclusions: Entourage is an all-in-one, versatile, and streamlined bioinformatics software for virome investigation, developed with a focus on ease of use. Entourage is available at https://codeberg.org/CENMIG/Entourage under the MIT license. [ABSTRACT FROM AUTHOR]

Dissecting the molecular basis of adaptation remains elusive despite our ability to sequence genomes and transcriptomes. At present, most genomic research on selection focusses on signatures of selective sweeps in patterns of heterozygosity. Other research has studied changes in patterns of gene expression in evolving populations but has not usually identified the genetic changes causing these shifts in expression. Here we attempt to go beyond these approaches by using machine learning tools to explore interactions between the genome, transcriptome, and life-history phenotypes in two groups of 10 experimentally evolved Drosophila populations subjected to selection for opposing life history patterns. Our findings indicate that genomic and transcriptomic data have comparable power for predicting phenotypic characters. Looking at the relationships between the genome and the transcriptome, we find that the expression of individual transcripts is influenced by many sites across the genome that are differentiated between the two types of populations. We find that single-nucleotide polymorphisms (SNPs), transposable elements, and indels are powerful predictors of gene expression. Collectively, our results suggest that the genomic architecture of adaptation is highly polygenic with extensive pleiotropy. [ABSTRACT FROM AUTHOR]

Fixation index (Fst) statistics provide critical insights into evolutionary processes affecting the structure of genetic variation within and among populations. Fst statistics have been widely applied in population and evolutionary genetics to identify genomic regions targeted by selection pressures. The FSTest 1.3 software was developed to estimate four Fst statistics of Hudson, Weir and Cockerham, Nei, and Wright using high-throughput genotyping or sequencing data. Here, we introduced FSTest 1.3 and compared its performance with two widely used software VCFtools 0.1.16 and PLINK 2.0. Chromosome 1 of 1000 Genomes Phase III variant data belonging to South Asian (n = 211) and African (n = 274) populations were included as an example case in this study. Different Fst estimates were calculated for each single-nucleotide polymorphism (SNP) in a pairwise comparison of South Asian against African populations, and the results of FSTest 1.3 were confirmed by VCFtools 0.1.16 and PLINK 2.0. Two different sliding window approaches, one based on a fixed number of SNPs and another based on a fixed number of base pair (bp) were conducted using FSTest 1.3 and VCFtools 0.1.16. Our results showed that regions with low coverage genotypic data could lead to an overestimation of Fst in sliding window analysis using a fixed number of bp. FSTest 1.3 could mitigate this challenge by estimating the average of consecutive SNPs along the chromosome. FSTest 1.3 allows direct analysis of VCF files with a small amount of code and can calculate Fst estimates on a desktop computer for more than a million SNPs in a few minutes. FSTest 1.3 is freely available at https://github.com/similab/FSTest. [ABSTRACT FROM AUTHOR]

Background: The application of reduced metagenomic sequencing approaches holds promise as a middle ground between targeted amplicon sequencing and whole metagenome sequencing approaches but has not been widely adopted as a technique. A major barrier to adoption is the lack of read simulation software built to handle characteristic features of these novel approaches. Reduced metagenomic sequencing (RMS) produces unique patterns of fragmentation per genome that are sensitive to restriction enzyme choice, and the non-uniform size selection of these fragments may introduce novel challenges to taxonomic assignment as well as relative abundance estimates. Results: Through the development and application of simulation software, readsynth, we compare simulated metagenomic sequencing libraries with existing RMS data to assess the influence of multiple library preparation and sequencing steps on downstream analytical results. Based on read depth per position, readsynth achieved 0.79 Pearson's correlation and 0.94 Spearman's correlation to these benchmarks. Application of a novel estimation approach, fixed length taxonomic ratios, improved quantification accuracy of simulated human gut microbial communities when compared to estimates of mean or median coverage. Conclusions: We investigate the possible strengths and weaknesses of applying the RMS technique to profiling microbial communities via simulations with readsynth. The choice of restriction enzymes and size selection steps in library prep are non-trivial decisions that bias downstream profiling and quantification. The simulations investigated in this study illustrate the possible limits of preparing metagenomic libraries with a reduced representation sequencing approach, but also allow for the development of strategies for producing and handling the sequence data produced by this promising application. [ABSTRACT FROM AUTHOR]

Motivation Phylogenetics has moved into the era of genomics, incorporating enormous volumes of data to study questions at both shallow and deep scales. With this increase in information, phylogeneticists need new tools and skills to manipulate and analyze these data. To facilitate these tasks and encourage reproducibility, the community is increasingly moving toward automated workflows. Results Here we present pipesnake , a phylogenomics pipeline written in Nextflow for the processing, assembly, and phylogenetic estimation of genomic data from short-read sequences. pipesnake is an easy to use and efficient software package designed for this next era in phylogenetics. Availability and implementation pipesnake is publicly available on GitHub at https://github.com/AusARG/pipesnake and accompanied by documentation and a wiki/tutorial. [ABSTRACT FROM AUTHOR]

Brevibacillus brevis is one of the most common biocontrol strains with broad applications in the prevention and control of plant diseases and insect pests. In order to deepen our understanding of B. brevis genomes, describe their characteristics comprehensively, and mine secondary metabolites, we retrieved the genomic sequences of nine B. brevis strains that had been assembled into complete genomes from the NCBI database. These genomic sequences were analyzed using phylogenetic analysis software, pan-genome analysis software, and secondary metabolite mining software. Results revealed that the genome size of B. brevis strains ranged from 6.16 to 6.73 Mb, with GC content ranging from 47.0% to 54.0%. Phylogenetic analysis classified the nine B. brevis strains into three branches. The analyses of ANI and dDDH showed that B. brevis NEB573 had the potential to become a new species of Brevibacillus and needed further research in the future. The pan-genome analysis identified 10032 gene families, including 3257 core gene families, 3112 accessory gene families, and 3663 unique gene families. In addition, 123 secondary metabolite biosynthetic gene clusters of 20 classes were identified in the genomes of nine B. brevis strains. The major types of biosynthetic gene clusters were non-ribosomal peptide synthase (NRPS) and transAT polyketide synthase (transAT-PKS). Furthermore, a large number of untapped secondary metabolites were identified in B. brevis. In summary, this study elucidated the pan-genome characteristics of the biocontrol bacterium B. brevis and identified its secondary metabolites, providing valuable insights for its further development and utilization. [ABSTRACT FROM AUTHOR]

This article provides information on Acute Hepatopancreatic Necrosis Disease (AHPND), a bacterial disease that has had a significant impact on the shrimp farming industry. The main causative agent of AHPND is Vibrio parahaemolyticus, but other Vibrio strains with similar toxin genes have also been reported. The article focuses on the identification and evaluation of a novel Vibrio strain isolated from a shrimp farm in South Korea. The strain, known as HJ-2023, was found to be highly virulent and resistant to certain antibiotics. The research emphasizes the importance of biosecurity measures to prevent the spread of AHPND in aquaculture. [Extracted from the article]

This paper investigates the optimal remediation process in an aquifer using Modflow 6 software and genetic algorithms. A theoretical confined aquifer has been polluted over a long period of time by unnoticed leakage in a pipeline conveying leachate from an adjacent landfill to a wastewater treatment plant. When the extended leakage and groundwater pollution are discovered, the optimal planning of the remediation strategy is investigated using the pump-and-treat method or/and hydrodynamic control of the pollution. The practical goal is to find the optimal locations and flow rates of two additional pumping wells, which will pump the polluted water or/and control pollution, protecting an existing drinking water pumping well, securing its fully operational mode even during the remediation process with the minimum possible cost, simply represented by the pumped water volume of the additional wells. The remediation process is considered complete when the maximum concentration in the aquifer drops below a certain limit. The Modflow software (handled by the Flopy Python package) simulates the flow field and advective–dispersive mass transport, and a genetic algorithm is used as the optimization tool. The coupled simulation–optimization model, Modflow-GA, complemented by a sophisticated post-processing results analysis, provides optimal and alternate sub-optimal remediation strategies for the decision makers to select from. [ABSTRACT FROM AUTHOR]

Objective: To analyze the clinical infection characteristics and genetic environments of resistance genes in carbapenem-resistant Citrobacter europaeus using whole-genome sequencing. Methods: The susceptibility of two clinical isolates of C. europaeus (WF0003 and WF1643) to 24 antimicrobial agents was assessed using the BD Phoenix™ M50 System and Kirby-Bauer (K-B) disk-diffusion method. Whole-genome sequencing was performed on the Illumina and Nanopore platforms, and ABRicate software was used to predict resistance and virulence genes of carbapenem-resistant C. europaeus. The characteristics of plasmids carrying carbapenem-resistance genes and their genetic environments were analyzed. Single nucleotide polymorphisms were used to construct a phylogenetic tree to analyze the homology of these two C. europaeus strains with ten strains of C. europaeus in the NCBI database. Results: The two strains of carbapenem-resistant C. europaeus are resistant to various antimicrobial agents, particularly carbapenems and β-lactams. WF0003 carries blaNDM− 1, which is located on an IncX3 plasmid that has high homology to the pNDM-HN380 plasmid. blaNDM− 1 is located on a truncated Tn125. It differs from Tn125 by the insertion of IS5 in the upstream ISAba125 and the deletion of the downstream ISAba125, which is replaced by IS26. WF1643 carries blaOXA− 48 in a Tn1999 transposon on the IncL/M plasmid, carrying only that single drug resistance gene. Homology analysis of these two strains of C. europaeus with ten C. europaeus strains in the NCBI database revealed that the 12 strains can be classified into three clades, with both WF0003 and WF1643 in the B clade. Conclusion: To the best of our knowledge, this is the first study to report an IncX3 plasmid carrying blaNDM− 1 in C. europaeus in China. C. europaeus strains harboring carbapenem-resistance genes are concerning in relation to the spread of antimicrobial resistance, and the presence of carbapenem-resistance genes in C. europaeus should be continuously monitored. [ABSTRACT FROM AUTHOR]

Short tandem repeat (STR) variation is an often overlooked source of variation between genomes. STRs comprise about 3% of the human genome and are highly polymorphic. Some cause Mendelian disease, and others affect gene expression. Their contribution to common disease is not well-understood, but recent software tools designed to genotype STRs using short read sequencing data will help address this. Here, we compare software that genotypes common STRs and rarer STR expansions genome-wide, with the aim of applying them to population-scale genomes. By using the Genome-In-A-Bottle (GIAB) consortium and 1000 Genomes Project short-read sequencing data, we compare performance in terms of sequence length, depth, computing resources needed, genotyping accuracy and number of STRs genotyped. To ensure broad applicability of our findings, we also measure genotyping performance against a set of genomes from clinical samples with known STR expansions, and a set of STRs commonly used for forensic identification. We find that HipSTR, ExpansionHunter and GangSTR perform well in genotyping common STRs, including the CODIS 13 core STRs used for forensic analysis. GangSTR and ExpansionHunter outperform HipSTR for genotyping call rate and memory usage. ExpansionHunter denovo (EHdn), STRling and GangSTR outperformed STRetch for detecting expanded STRs, and EHdn and STRling used considerably less processor time compared to GangSTR. Analysis on shared genomic sequence data provided by the GIAB consortium allows future performance comparisons of new software approaches on a common set of data, facilitating comparisons and allowing researchers to choose the best software that fulfils their needs. [ABSTRACT FROM AUTHOR]

The previous observational studies could not overcome the effects of confounding variables and reverse causality. We aimed to determine whether there is a causal relationship between systemic lupus erythematosus and osteoporosis in East Asian and European populations, respectively, by two-sample Mendelian Randomization analysis. We obtained and downloaded data from publicly available genome-wide association study databases and analyses for East Asian and European populations, including systemic lupus erythematosus (SLE), osteoporosis (OP), multisite bone mineral density (BMD), and OP with fracture. After screening for instrumental single-nucleotide polymorphisms (SNPs) significantly correlated to SLE, the inverse-variance weighted (IVW) method was used for calculating the ratio and 95% confidence interval, besides utilizing MR-Egger, weighted median, and weighted mode to assess the robustness of the primary outcome. Moreover, multiple analyses, including MR-PRESSO, MR-Egger intercept, Cochran's Q test, as well as "leave-one-out" sensitivity, were used for evaluating horizontal pleiotropy, heterogeneity, and stability. Finally, we exchanged exposure and outcome and performed a reverse MR analysis. IVW (OR = 1.05, 95% CI = 1.01–1.09, P = 0.009) indicated a significant positive correlation between genetically predicted SLE and OP in East Asians. Furthermore, neither heterogeneity nor horizontal pleiotropy was observed. In Europe, there was no significant genetically predicted causal relation between SLE and OP. Bi-directional MR analysis showed no reverse causality between SLE and OP. In the East Asian population, genetically predicted SLE may have had a positive causal relationship with OP. In Europe, there is insufficient evidence for a potential causal relation between SLE and OP or BMD and fracture, and the correlations currently observed may be attributed to a variety of confounder variables. [ABSTRACT FROM AUTHOR]

Background: Recent improvements in sequencing technologies enabled detailed profiling of genomic features. These technologies mostly rely on short reads which are merged and compared to reference genome for variant identification. These operations should be done with computers due to the size and complexity of the data. The need for analysis software resulted in many programs for mapping, variant calling and annotation steps. Currently, most programs are either expensive enterprise software with proprietary code which makes access and verification very difficult or open-access programs that are mostly based on command-line operations without user interfaces and extensive documentation. Moreover, a high level of disagreement is observed among popular mapping and variant calling algorithms in multiple studies, which makes relying on a single algorithm unreliable. User-friendly open-source software tools that offer comparative analysis are an important need considering the growth of sequencing technologies. Results: Here, we propose Comparative Sequencing Analysis Platform (COSAP), an open-source platform that provides popular sequencing algorithms for SNV, indel, structural variant calling, copy number variation, microsatellite instability and fusion analysis and their annotations. COSAP is packed with a fully functional user-friendly web interface and a backend server which allows full independent deployment for both individual and institutional scales. COSAP is developed as a workflow management system and designed to enhance cooperation among scientists with different backgrounds. It is publicly available at https://cosap.bio and https://github.com/MBaysanLab/cosap/. The source code of the frontend and backend services can be found at https://github.com/MBaysanLab/cosap-webapi/ and https://github.com/MBaysanLab/cosap%5ffrontend/ respectively. All services are packed as Docker containers as well. Pipelines that combine algorithms can be customized and new algorithms can be added with minimal coding through modular structure. Conclusions: COSAP simplifies and speeds up the process of DNA sequencing analyses providing commonly used algorithms for SNV, indel, structural variant calling, copy number variation, microsatellite instability and fusion analysis as well as their annotations. COSAP is packed with a fully functional user-friendly web interface and a backend server which allows full independent deployment for both individual and institutional scales. Standardized implementations of popular algorithms in a modular platform make comparisons much easier to assess the impact of alternative pipelines which is crucial in establishing reproducibility of sequencing analyses. [ABSTRACT FROM AUTHOR]

Genetic diversity is a key component of evolution, and unraveling factors that promote genetic differentiation in space and time is a central question in evolutionary biology. One of the most diverse and ecologically important tree genera in tropical forests worldwide is Ficus (Moraceae). It has been suggested that, given the great dispersal capacity of pollinating fig wasps (Chalcidoidea; Agaonidae), the spatial genetic structure, particularly in monoecious fig species, should be weak. However, no studies have addressed the factors that determine the genetic structure of Ficus species in regions of high geological, geographic, and climatic complexity, such as the Mexican Transition Zone. Using nuclear single nucleotide polymorphisms (5311 SNPs) derived from low‐coverage whole genomes and 17 populations, we analyzed the population genomics of Ficus pringlei to characterize neutral and adaptive genetic variation and structure and its association with geographic barriers such as the Trans‐Mexican Volcanic Belt, environmental heterogeneity, and wind connectivity. From genomic data of 71 individuals, high genetic diversity, and the identification of three genomic lineages were recorded (North, South, and Churumuco). The results suggest that genetic variation is primarily determined by climatic heterogeneity. Ficus pringlei populations from the north and south of the Trans‐Mexican Volcanic Belt also exhibited minimal genetic differentiation (FST = 0.021), indicating that this mountain range may not act as an insurmountable barrier to gene flow. Wind connectivity is also highlighted in structuring putative adaptive genetic variation, underscoring the intricate complexity of the various factors influencing genetic variation in the species. This study provides information on the possible mechanisms underlying the genetic variation of endemic species of the tropical dry forest of Western Mexico, such as F. pringlei. [ABSTRACT FROM AUTHOR]

Purpose: Strongyloides stercoralis is a parasite with special characteristics presenting it as a unique nematode. Iran is an endemic area for S.stercoralis. In this study, nested-qPCR-high resolution melting (HRM) technology was applied on some human isolates of S.stercoralis from this country by focusing on evolutionary genetics analysis. Methods: Twelve human isolates of S. stercoralis were collected from four endemic provinces of Iran. Genomic DNA was extracted from a single filariform larva for every isolate. Using specific primers targeting partial regions in cox1 gene, nested-qPCR-HRM was performed and melting-curve profiles were analyzed alongside the evaluation of genetic proximity and phylogenetic analysis using MEGA7 and DnaSP5 software. Results: The melting temperature (Tm) values of the isolates were 77.9 °C−78.3 °C. All isolates from Guilan, Mazandaran, and Khouzestan Provinces shared Tm values of 78.2 °C to 78.3 °C, while the isolates from Hormozgan Province showed Tm values of 77.9 °C, 78.0 °C, and 78.1 °C. The phylogenetic tree illustrated that the sequences of the current study included nine haplotypes. Tajima's D index analyses showed that cox1 gene in S. stercoralis isolates was negative (Tajima's D = − 0.27). Conclusion: The isolates were divided into five temperature groups. Although HRM assay compared to PCR sequencing identified more limited genetic changes, it revealed that the mean of Tm of the isolates from Hormozgan Province was lower than those of other provinces and represented specific haplotypes for this geographical region on the phylogenetic tree. [ABSTRACT FROM AUTHOR]

Background: Astroviruses (AstVs) are single-stranded RNA viruses that have been detected in a wide range of mammals and birds. They are associated with numerous interspecies transmissions and viral recombination events, posing a threat to human and animal health. Methods: We collected 1,333 samples from wild animals, including bats, rodents, wild boars, and birds, from various states and cities in the Yunnan Province, China, between 2020 and 2023 to investigate the presence of AstVs. AstVs were detected using a polymerase chain reaction targeting the RdRp gene. Finally, the Molecular Evolutionary Genetics Analysis software was used to construct the phylogenetic tree. Results: The overall positivity rate for AstVs was 7.12% in four species, indicating their widespread occurrence in the region. High genetic diversity among AstVs was observed in different animal species, suggesting the potential for interspecies transmission, particularly among rodents and birds. Additionally, we identified a novel AstV strain and, for the first time, provided information on the presence of bastroviruses in Yunnan, China. Conclusions: The widespread distribution and high genetic diversity of AstVs, along with the observed potential for interspecies transmission, highlight the importance of further investigation and surveillance in the region. The findings emphasize the need for increased attention to AstVs and their potential impact on human and animal health in Yunnan and other regions. [ABSTRACT FROM AUTHOR]

The broad-banded velvetchin Hapalogenys analis is an economically and scientifically important global temperate and tropical nearshore marine fish. To understand the genetic evolution mechanism of H. analis, simplified genome sequencing analysis was conducted on 82 samples of H. analis from three populations (Akashi, Zhoushan, and Shantou) in the northwestern Pacific Ocean using double-digest restriction site-associated DNA sequencing. Genetic characteristics were identified using single-nucleotide polymorphism loci, and a small fragment library (250-450 bp long) was constructed for double-end sequencing. Single-nucleotide polymorphisms (SNPs) were detected using Stacks software and analyzed. The phylogenetic tree was constructed to analyze the population structure characteristics and the genetic evolutionary relationships between individuals in different regions at the genetic level. The sequencing library constructed for 82 samples of H. analis using double-digest restriction site-associated DNA sequencing possessed an average of 7,931,195 sequencing sequences and an average of 1,141,560,806 bases in the 82 samples. A total of 3,204,106 SNP loci were obtained from the three populations of H. analis, indicating rich genetic diversity. The transition to transversion ratio of SNPs was >1.5, indicating transformational reversal bias in H. analis. The observed heterozygosity of the various populations was 0.186-0.199, with an expected heterozygosity of 0.253-0.268. High diversity in all three populations was detected using nucleotide diversity analysis. AS and ZS had the highest degree of differentiation. The H. analis samples shared two gene libraries; some populations were closely related, whereas others had a distant genetic relationship. The results of genetic statistics, genetic differentiation, population structure, principal component, phylogenetic, and genetic relationship analyses supported independent clustering of the AS population, which can be used as a new genetic resource for conserving H. analis. These results provide a reference basis for comparative genomics studies of H. analis and rational utilization of Hapalogenys resources. [ABSTRACT FROM AUTHOR]

The Iberian lynx has shown a favourable demographic trajectory in the last decade as a result of the conservation measures adopted which are still ongoing. However, the viability of the species is still compromised by genetic factors. Here, we used the GESP software that predicts the effective population size (Ne) and inbreeding accumulation (Δf) over time in metapopulations, to find realistic scenarios that guarantee the genetic viability of this species. We proposed as genetic targets that Ne of the metapopulation (NeMeta) should exceed 500 in 20 generations (long term), whereas Δf of the subpopulations (Δfx) should not exceed 0.05 in five generations (short term). The current Iberian lynx metapopulation configuration, with the expected subpopulations sizes at carrying capacity (5 subpops.; Ne1 = 100, Ne2,3,4,5 = 25), does not reach the long-term goal, with a NeMeta ~ 150 in 20 generations. The results indicate that the long-term genetic viability of the metapopulation requires an increase in the subpopulation size of 50–200%, the creation of at least 8 new subpopulations, and migration rates close to 0.1 between neighbouring subpopulations, comprising 2165 effective individuals (ca. 1100 breeding females). In addition, a minimum migration rate of 0.05 into the smallest subpopulations of Ne = 25 (i.e. 1.25 migrants/generation) is needed to avoid excessive inbreeding accumulation (short-term goal). Larger subpopulations are preferable to several smaller subpopulations with the same number of effective individuals, even when the latter are well connected. Although these requirements seem challenging to achieve in the short-medium term, the study provides key information for informed decision making by environmental managers and policymakers. The conclusions drawn here apply to other carnivores in need of conservation. [ABSTRACT FROM AUTHOR]

Background: CLS causes severe yield loss in mung bean. To sustain mung bean health, it is vital to include alleles that may be useful in resisting CLS. Therefore, in the present study, 90 mung bean genotypes were included for assessing genetic diversity using 66 SSR markers for CLS resistance. Methods: The mung bean crop was regularly monitored for the presence of pathogen and development of CLS disease in natural field conditions during pre rabi 2018 and pre rabi 2019. CLS screening assessments of germplasms were carried out using a 1-5 rating scale. Total genomic DNA was isolated from the leaf samples of all the genotypes and SSR genotyping was performed. The genotyping data were analysed by using GenAlEx 6.51b2 and TASSEL 5.0 software programme for genetic diversity parameters. Result: A moderate molecular diversity was observed in the panel population as a wide variation in alleles showed a range of 80 bp to 300 bp with the average PIC value of 0.40. The maximum percentage of polymorphic loci was 75.76% in the resistance genotypes followed by 56.06% in moderately resistant genotypes. The percentages of Shannon information among and within the population were found to be 44% and 56%, respectively. The archaeopterx tree differentiated the panel population into two major clusters, i.e., cluster I and cluster II, which were again sub divided into different sub-clusters and sub-sub clusters. These findings indicate that, the mung bean germplasm panel used in the present study could enrich the local gene pool and provide information for CLS resistance breeding. [ABSTRACT FROM AUTHOR]

Autopolyploidy is quite common in most clades of eukaryotes. The emergence of sequence‐based genotyping methods with individual and marker tags now enables confident allele dosage, overcoming the main obstacle to the democratization of the population genetic approaches when studying ecology and evolution of autopolyploid populations and species. Reproductive modes, including clonality, selfing and allogamy, have deep consequences on the ecology and evolution of population and species. Analysing genetic diversity and its dynamics over generations is one efficient way to infer the relative importance of clonality, selfing and allogamy in populations. GenAPoPop is a user‐friendly solution to compute the specific corpus of population genetic indices, including indices about genotypic diversity, needed to analyse partially clonal, selfed and allogamous polysomic populations genotyped with confident allele dosage. It also easily provides the posterior probabilities of quantitative reproductive modes in autopolyploid populations genotyped at two‐time steps and a graphical representation of the minimum spanning trees of the genetic distances between polyploid individuals, facilitating the interpretation of the genetic coancestry between individuals in hierarchically structured populations. GenAPoPop complements the previously existing solutions, including SPAGEDI and POLYGENE, to use genotypings to study the ecology and evolution of autopolyploid populations. It was specially developed with a simple graphical interface and workflow, and comes with a simulator to facilitate practical courses and teaching of population genetics for autopolyploid populations. [ABSTRACT FROM AUTHOR]

MyoGenin (MyoG) is one of the key regulatory factors for controlling the generation of skeletal muscle. Codon usage bias (CUB) as a unique feature of the genome, can reveal the specific differences across species. Moreover, in the codon usage models of gene sequence, the dynamics of base composition can give a better understanding of the molecular mechanism and evolutionary relationships of a specific gene. Here, MyoG coding sequences of eight mammalian species were selected from the GenBank database to calculate the nucleotide composition (GC content) and genetic indexes, including effective number of codons (ENC), relative synonymous codon usage (RSCU) and relative codon bias score (RCBS) with R software. Results show that MyoG codon usage of different species is affected by GC bias, especially GC3s. Besides, the 23 codons with high codon usage frequencies are preferentially ended with G/C. Thereinto, the CUG, GUG, GCC, AUC and AGC with higher RSCU values are the most optimal codon in different species. The functional qualities of codons in Homo sapiens and Gallus gallus are similar, while those in Bos taurus and Ovis aries are similar. ENC vs. GC3s plot showed a significant negative correlation between the ENC and the GC3s (Pearson r = –0.934, P < 0.01). Moreover, a higher frequency of optimal codons (FOP) and RCBS value indicated a stronger codon bias in the MyoG gene, which is associated with its high expression levels. Our findings report an insight into the codon usage patterns of MyoG gene and will be useful for better understanding its function and structures. [ABSTRACT FROM AUTHOR]

Background: With the advancement of whole‐genome sequencing (WGS) technology, massively parallel sequencing (MPS) remains the mainstream due to its accuracy, low cost, and high throughput. The development of the analytical pipeline corresponding to MPS has always been of great importance. Increasingly large population genomics studies, as a specific type of big data research, pose new challenges for analysis solutions. Results: Here, we introduce ZBOLT, a comprehensive analysis system that incorporates both software and hardware advancements, making it an appropriate choice for large‐scale population genomic studies that require extensive data processing. In this study, we first evaluate ZBOLT's calling accuracy using the Genome in a Bottle (GIAB) benchmark dataset. Then we apply ZBOLT to a large‐scale population genomics study with 5,616 high sequencing depth samples totaling 1.16Pbp (base pair). As the results show, ZBOLT demonstrates exceptional efficiency and low energy consumption, processing 100Tbp per day and using 1kWh per 100Gbp sequenced sample. Conclusion: This research serves as a valuable reference for analyzing sequencing data from large population cohorts and underscores the significant potential of ZBOLT in large‐scale population genomics studies. [ABSTRACT FROM AUTHOR]

The American eel (Anguilla rostrata) has long been regarded as a panmictic fish and has been confirmed as such in the northern part of its range. In this paper, we tested for the first time whether panmixia extends to the tropical range of the species. To do so, we first assembled a reference genome (975 Mbp, 19 chromosomes) combining long (PacBio and Nanopore and short (Illumina paired‐end) reads technologies to support both this study and future research. To test for population structure, we estimated genotype likelihoods from low‐coverage whole‐genome sequencing of 460 American eels, collected at 21 sampling sites (in seven geographic regions) ranging from Canada to Trinidad and Tobago. We estimated genetic distance between regions, performed ADMIXTURE‐like clustering analysis and multivariate analysis, and found no evidence of population structure, thus confirming that panmixia extends to the tropical range of the species. In addition, two genomic regions with putative inversions were observed, both geographically widespread and present at similar frequencies in all regions. We discuss the implications of lack of genetic population structure for the species. Our results are key for the future genomic research in the American eel and the implementation of conservation measures throughout its geographic range. Additionally, our results can be applied to fisheries management and aquaculture of the species. [ABSTRACT FROM AUTHOR]

Aims Approximately 10% of children are born prematurely, and bacterial vaginosis during pregnancy is associated with preterm delivery. Highly accurate species-level vaginal microflora analysis helps control bacteria-induced preterm birth. Therefore, we aimed to conduct a bioinformatic analysis of gene sequences using 16S databases and compare their efficacy in comprehensively identifying potentially pathogenic vaginal microbiota in Japanese women. Methods and results The 16 s rRNA databases, Silva, Greengenes, and the basic local alignment search tool (BLAST) were compared to determine whether the classification quality could be improved using the V3–V4 region next-generation sequencing (NGS) sequences. It was found that NGS data were aligned using the BLAST database with the QIIME 2 platform, whose classification quality was higher than that of Silva, and the combined Silva and Greengenes databases based on the mutual complementarity of the two databases. Conclusions The reference database selected during the bioinformatic processing influenced the recognized sequence percentage, taxonomic rankings, and accuracy. This study showed that the BLAST database was the best choice for NGS data analysis of Japanese women's vaginal microbiota. [ABSTRACT FROM AUTHOR]

Low-coverage whole-genome sequencing (also known as "genome skimming") is becoming an increasingly affordable approach to large-scale phylogenetic analyses. While already routinely used to recover organellar genomes, genome skimming is rather rarely utilized for recovering single-copy nuclear markers. One reason might be that only few tools exist to work with this data type within a phylogenomic context, especially to deal with fragmented genome assemblies. We here present a new software tool called Patchwork for mining phylogenetic markers from highly fragmented short-read assemblies as well as directly from sequence reads. Patchwork is an alignment-based tool that utilizes the sequence aligner DIAMOND and is written in the programming language Julia. Homologous regions are obtained via a sequence similarity search, followed by a "hit stitching" phase, in which adjacent or overlapping regions are merged into a single unit. The novel sliding window algorithm trims away any noncoding regions from the resulting sequence. We demonstrate the utility of Patchwork by recovering near-universal single-copy orthologs within a benchmarking study, and we additionally assess the performance of Patchwork in comparison with other programs. We find that Patchwork allows for accurate retrieval of (putatively) single-copy genes from genome skimming data sets at different sequencing depths with high computational speed, outperforming existing software targeting similar tasks. Patchwork is released under the GNU General Public License version 3. Installation instructions, additional documentation, and the source code itself are all available via GitHub at https://github.com/fethalen/Patchwork. [ABSTRACT FROM AUTHOR]

Background: Catfish is a freshwater and saltwater fish type with a wide distribution throughout the Indonesian archipelago. This study was conducted to analyze Indonesian catfish's genetic diversity and evolutionary relationships based on the mitochondrial ND6 gene. Methods: Twenty-eight catfish samples were collected from nine rivers and one ocean in seven provinces of Indonesia. The MT-ND6 gene was amplified by using a set of primers (BaungND6F and BaungND6R). The MEGA X software was used to examine the MTND6 sequences for genetic variation and phylogenetic relation between Indonesian catfish populations. Result: There were 167 nucleotide site variations and thirty-two amino acid variations in the MT-ND6 gene. The genetic difference among populations ranges from 0.9 to 25% and the average evolutionary divergence in the overall populations was 14%, with catfish BB and PM having the closest genetic distance, while the farthest is BF to MP and BF to MS. In conclusion, the phylogenetic tree indicated that there were four distinct catfish clades in this study: MP, MS, KR, PM, BB and KS had been grouped with Hemibagrus nemurus (Bagridae family), EM had been grouped with Mystus vittatus (Bagridae family), BSBJ had been grouped with Pangasius pangasius (Pangasiidae family) and PD and BF had been grouped with Netuma thalassina (Ariidae family). [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the efficiency of the automated DNA extraction method using the EZ2 Connect Fx instrument (QIAGEN), showcasing its ability to achieve swift and reliable results from bone samples. Genomic DNA extraction from 16 archaelogical and recent bone samples was performed with a commercial EZ1&2® DNA Investigator® Kit (QIAGEN). Prior to PCR amplification, DNA concentration was quantified using Qubit™ Fluorometer (Thermo Fisher Scientific). Amplification was carried out with the Investigator 24plex Kit (QIAGEN). DNA profiles were generated using 3500 Genetic Analyzer (Applied Biosystems) and analysed with GeneMapper™ ID-X 1.6 Software (Applied Biosystems). For nine archaeological dental samples, eight exhibited partial profiles, and one showed no amplified loci. Among the seven recent femoral bone samples, one exhibited a partial profile, while six presented complete DNA profiles. In this study, we investigated the benefits of automated DNA extraction, particularly its ability to generate timely and reliable results. Additionally, this method reduces pipette and tip usage, almost completely minimising the risk of human error, exogenous DNA contamination and cross-contamination. Such efficiency is of paramount importance, especially when working with skeletal remains, namely archaeological skeletal remains that pose a challenge for molecular genetic analyses. [ABSTRACT FROM AUTHOR]

Malaria has not yet been eradicated in Iran, and Plasmodium vivax (P. vivax) is the main cause of malaria in the country. This study aimed to investigate and analyze the amount of genetic diversity of Plasmodium vivax merozoite surface protein-5 (PvMSP-5) exon 1 gene in the southeast of Iran. Thirty-five patients with clinical symptoms of P. vivax malaria participated. The exon 1 of PvMSP-5 was amplified by PCR, and the PCR product of all isolates was sequenced, and genetic polymorphisms were determined using various genetic software. The analysis showed that studied isolates are different from one another in the DnaSP software version. Out of the 612 sites, 477 were monomorphic and 135 were segregated. The total number of mutations was 143. The singleton variable and the parsimony informative sites were 23 and 112, respectively. There were 17 specific haplotypes with haplotype diversity equal to 0.943. Nucleotide diversity was equal to 0.06766 in the isolates. The ratio of nonsynonymous (0.06446) to synonymous (0.07909) mutations was 0.815020. Tajima's D, which expressed coding, and non-coding regions, was 0.72403, which was not deemed significant (P > 0.10). The analysis of intrapopulation diversity revealed nucleotide and haplotype diversity in the msp-5 gene of Iranian P. vivax isolates. In addition to balancing or purifying selection, intragenic recombination also contributed to the variation observed in exon 1 of PvMSP-5, according to the findings. [ABSTRACT FROM AUTHOR]

The prognosis for the WHO grade 4 IDH-mutant astrocytoma is better than IDH-wildtype glioblastoma (GBM) patients. The purpose of this study is to explore the potential mechanism of how IDH1 mutation can increase the efficacy of radiotherapy and to establish a risk-score model to predict the efficacy of radiotherapy in WHO grade 4 gliomas. First, we conducted experimental study on the effect of IDH1R132H mutation on glioma cells in vitro. Radiosensitivity of glioma cells was detected by γ-H2AX after 5 Gy radiation. Cell proliferation, migration and invasion were determined respectively by CCK-8, EDU, monolayer cell migration scratch assay and Transwell assay. Then we analyzed IDH1 gene status and the survival of WHO grade 4 glioma patients received radiotherapy in our center and verified our results by analyzing CGGA and TCGA database. For the risk-score model, we use CGGA data to find genetic differences between WHO grade 4 IDH-mutant astrocytoma and IDH-wildtype GBM patients, and determined a 4-gene radiotherapy-related signature through survival analysis by R software. Evaluation and verification through different glioma validation sets and different statistical methods. For in vitro experiments, we established glioma cells stably overexpressing IDH1 wild-type and IDH1-mutant proteins. γ-H2AX assay showed that IDH1-mutant glioma cells had higher radiosensitivity than wild-type. CCK-8 and EDU assay showed that proliferation capacity of IDH1-mutant glioma cells declined. Transwell assay and monolayer cell migration scratch assay also showed that IDH1-mutant glioma cells reduced migration and invasion capabilities. Among the 83 WHO grade 4 glioma patients who received radiotherapy in our center, WHO grade 4 IDH-mutant astrocytoma patients had longer OS and PFS versus IDH-wildtype GBM (P = 0.0336, P = 0.0324, respectively). TCGA and CGGA database analysis had the similar results. Through complex analysis of CGGA and TCGA databases, we established a risk-model that can predict the efficacy of radiotherapy for WHO grade 4 glioma patients. The 4-gene radiotherapy-related signature including ADD3, GRHPR, RHBDL1 and SLC9A9. Patients in the high-risk group had worse OS compared to low-risk group (P = 0.0001). High- and low-risk groups of patients receiving radiotherapy have significant survival differences, while patients who did not receive radiotherapy have no survival difference both in CGGA and TCGA databases. WHO grade 4 IDH-mutant astrocytoma is more radiosensitive than IDH-wildtype GBM patients. Our 4-gene radiotherapy-related signature can predict the radiation efficacy of WHO grade 4 glioma patients, and it may provide some reference for clinical treatment options. [ABSTRACT FROM AUTHOR]

Taking the Baiyanghe uranium deposit in Xinjiang as an example, the authors used the 3D geologic modeling and analysis software SKUA-GOCAD to establish a 3D geologic model of its topography, structure, stratum, granite, and ore body based on the study and knowledge of the geologic background, characteristics, and metallogenic rules of the deposit. Meanwhile, the authors summarized the 3D prediction model, conducted a quantitative extraction and analysis of favorable metallogenic information, and carried out the 3D prediction and study on the Baiyanghe uranium deposit by combining the 3D weights of the evidence method and the 3D informational method. Based on the analysis and prediction results, the deep prospecting target area was delineated. The 3D metallogenic prediction of the uranium deposit was achieved, which has provided technical support for the exploration of the Baiyanghe uranium deposit and a beneficial reference for the 3D metallogenic prediction of other minerals. Such a practice can provide a certain practical application value and a reference value for the research in this field. [ABSTRACT FROM AUTHOR]

Adiposity has gradually become a global public threat over the years with drastic increase in the attributable deaths and disability adjusted life years (DALYs). Given an increased metabolic risk among Asians as compared to Europeans for any given body mass index (BMI) and considering the differences in genetic architecture between them, the present review aims to summarize the findings from genome‐wide scans for various adiposity indices and related anthropometric measures from Asian populations. The search for related studies, published till February 2022, were made on PubMed and GWAS Catalog using search strategy built with relevant keywords joined by Boolean operators. It was recorded that out of a total of 47 identified studies, maximum studies are from Korean population (n = 14), followed by Chinese (n = 7), and Japanese (n = 6). Nearly 200 loci have been identified for BMI, 660 for height, 16 for weight, 28 for circumferences (waist and hip), 32 for ratios (waist hip ratio [WHR] and thoracic hip ratio [THR]), 5 for body fat, 16 for obesity, and 28 for adiposity‐related blood markers among Asians. It was observed that though, most of the loci were unique for each trait, there were 3 loci in common to BMI and WHR. Apart from validation of variants identified in European setting, there were many novel loci discovered in Asian populations. Notably, 125 novel loci form Asian studies have been reported for BMI, 47 for height, 5 for waist circumference, and 2 for adiponectin level to the existing knowledge of the genetic framework of adiposity and related measures. It is necessary to examine more advanced adiposity measures, specifically of relevance to abdominal adiposity, a major risk factor for cardiometabolic disorders among Asians. Moreover, in spite of being one continent, there is diversity among different ethnicities across Asia in terms of lifestyle, climate, geography, genetic structure and consequently the phenotypic manifestations. Hence, it is also important to consider ethnic specific studies for identifying and validating reliable genetic variants of adiposity measures among Asians. [ABSTRACT FROM AUTHOR]

We present a model for the calculation of the production rates of cosmogenic nuclides in extraterrestrial material. The model is based on the Monte Carlo simulation software Geant4. Using this software an application simulating the irradiation of the spherical body with predefined chemical composition by galactic cosmic-ray protons was developed. The fluxes of secondary neutrons and protons generated within the body of the sample are calculated. These are further used for the calculation of the production rates for cosmogenic nuclides. The plausibility of the presented model was tested in case of the well-studied meteoritic sample Knyahinya for which the production rates of cosmogenic nuclides were previously measured and also calculated using MCNP simulation software. The production rates for 3He, 10Be, 21Ne, 22Ne, 26Al, 36Cl, 38Ar, 39Ar, 41Ca and 53Mn have been calculated in Knyahinya meteorite and for 10Be, 26Al and 36Cl in Apollo 17 sample 73,002. [ABSTRACT FROM AUTHOR]

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Sclerotinia stem rot is a broad-spectrum threat to rapeseed production, and Brassica juncea contains abundant genetic resources for resistance against Sclerotinia sclerotiorum. Therefore, it is of great significance to carry out screening, localization, and exploration of resistance loci for sclerotinia stem rot in Brassica juncea germplasm resources for the breeding of Sclerotinia-resistant rapeseed. In this study, the S. sclerotiorum resistance of Brassica juncea germplasm resources collected from various regions in Yunnan Province was evaluated under three different growth environments, and a whole-genome association analysis of S. sclerotiorum resistance loci was conducted based on the resequencing data of 91 Brassica juncea germplasm materials. According to the results of leaf identification under in vitro conditions in the three growth environments, one highly resistant germplasm material J7667 and one relatively resistant germplasm material J047 were selected. The resequencing data of the 91 materials were aligned to the reference genome of Brassica juncea for variation detection analysis, resulting in the detection of 11 337 871 SNPs and 40 170 Indels distributed on the 18 chromosomes of Brassica juncea. After data filtering, 403 211 high-quality SNPs were obtained. The phenotypic data of in vitro leaves, in vitro stems, and stem resistance to S. sclerotiorum of the 91 materials under the three growth environments were subjected to whole-genome association analysis using two analysis software, Emmax and Tassel. In the in vitro leaves, both analysis methods identified a total of 62 significantly associated SNP loci with resistance in the three different growth environments, including 23 and 39 significantly associated SNP loci in the Luoping winter sowing and Xiaoshao winter sowing environments, respectively, while no resistance loci were detected in the Xiaoshao summer sowing environment. In the stem of Luoping winter sowing, both methods detected 3 significantly associated SNP loci with resistance, while no significant SNP was detected in the stem of Xiaoshao summer sowing. In the Tassel method, closely located resistance SNP loci were detected on chromosomes A2, A8, and B2 in Luoping winter sowing and Xiaoshao winter sowing, while in the Emmax method, closely located resistance SNP loci were detected on chromosomes B5 and B8 in Luop-ing winter sowing and Xiaoshao winter sowing. In addition, this study mapped the previously identified S. sclerotio-rum resistance QTL loci and the resistance loci identified in this study to the reference genome of Brassica juncea. It was found that the resistance QTL intervals identified in this study (XLRA2-2, XLRA1-4) overlapped with the reported resistance QTL loci Sll2 and qsr10-1, respectively. [ABSTRACT FROM AUTHOR]

Elevated detection rates of the blaCTX-M-55 gene in animals have been reported as a result of antibiotic misuse in clinics. To investigate the horizontal transfer mechanism of blaCTX-M-55 and its associated mobile genetic elements (MGEs), we isolated 318 nonrepetitive strains of Escherichia coli (E. coli) from bovine samples in Xinjiang and Gansu provinces, China. All E. coli strains were screened for the CTX-M-55 gene using PCR. The complete genomic data were sequenced using the PacBio triplet sequencing platform and corrected using the Illumina data platform. The genetic environment of the plasmids carrying the resistance blaCTX-M-55 gene was mapped using the software Easyfig2.2.3 for comparison. The results showed that all blaCTX-M-55-positive strains were resistant to multiple antibiotics. Five strains of Escherichia coli carry the blaCTX-M-55 gene, which is adjacent to other resistance genes and is located on the IncHI2-type plasmid. Four of the five blaCTX-M-55-harbor strains carried translocatable units (TUs). All the donor bacteria carrying the blaCTX-M-55 genes could transfer horizontally to the recipient (E. coli J53 Azr). This study demonstrates that the transmission of blaCTX-M-55 is localized on IS26-flanked composite transposons. The cotransmission and prevalence of blaCTX-M-55 with other MDR resistance genes on epidemic plasmids require enhanced monitoring and control. [ABSTRACT FROM AUTHOR]

Background: Although the accumulation of whole-genome sequencing (WGS) data has accelerated the identification of mutations underlying complex traits, its impact on the accuracy of genomic predictions is limited. Reliable genotyping data and pre-selected beneficial loci can be used to improve prediction accuracy. Previously, we reported a low-coverage sequencing genotyping method that yielded 11.3 million highly accurate single-nucleotide polymorphisms (SNPs) in pigs. Here, we introduce a method termed selective linkage disequilibrium pruning (SLDP), which refines the set of SNPs that show a large gain during prediction of complex traits using whole-genome SNP data. Results: We used the SLDP method to identify and select markers among millions of SNPs based on genome-wide association study (GWAS) prior information. We evaluated the performance of SLDP with respect to three real traits and six simulated traits with varying genetic architectures using two representative models (genomic best linear unbiased prediction and BayesR) on samples from 3579 Duroc boars. SLDP was determined by testing 180 combinations of two core parameters (GWAS P-value thresholds and linkage disequilibrium r2). The parameters for each trait were optimized in the training population by five fold cross-validation and then tested in the validation population. Similar to previous GWAS prior-based methods, the performance of SLDP was mainly affected by the genetic architecture of the traits analyzed. Specifically, SLDP performed better for traits controlled by major quantitative trait loci (QTL) or a small number of quantitative trait nucleotides (QTN). Compared with two commercial SNP chips, genotyping-by-sequencing data, and an unselected whole-genome SNP panel, the SLDP strategy led to significant improvements in prediction accuracy, which ranged from 0.84 to 3.22% for real traits controlled by major or moderate QTL and from 1.23 to 11.47% for simulated traits controlled by a small number of QTN. Conclusions: The SLDP marker selection method can be incorporated into mainstream prediction models to yield accuracy improvements for traits with a relatively simple genetic architecture, however, it has no significant advantage for traits not controlled by major QTL. The main factors that affect its performance are the genetic architecture of traits and the reliability of GWAS prior information. Our findings can facilitate the application of WGS-based genomic selection. [ABSTRACT FROM AUTHOR]

Advances in DNA sequencing technologies allow the sequencing of whole genomes of thousands of individuals and provide several million single nucleotide polymorphisms (SNPs) per individual. These data combined with precise and high-throughput phenotyping enable genome-wide association studies (GWAS) and the identification of SNPs underlying traits with complex genetic architectures. The identified causal SNPs and estimated allelic effects could then be used for advanced marker-assisted selection (MAS) in breeding programs. But could such MAS compete with the broadly used genomic selection (GS)? This question is of particular interest for the lengthy tree breeding strategies. Here, with our new software "SNPscan breeder," we simulated a simple tree breeding program and compared the impact of different selection criteria on genetic gain and inbreeding. Further, we assessed different genetic architectures and different levels of kinship among individuals of the breeding population. Interestingly, apart from progeny testing, GS using gBLUP performed best under almost all simulated scenarios. MAS based on GWAS results outperformed GS only if the allelic effects were estimated in large populations (ca. 10,000 individuals) of unrelated individuals. Notably, GWAS using 3,000 extreme phenotypes performed as good as the use of 10,000 phenotypes. GS increased inbreeding and thus reduced genetic diversity more strongly compared to progeny testing and GWAS-based selection. We discuss the practical implications for tree breeding programs. In conclusion, our analyses further support the potential of GS for forest tree breeding and improvement, although MAS may gain relevance with decreasing sequencing costs in the future. [ABSTRACT FROM AUTHOR]

The availability of a large number of high‐density markers (SNPs) allows the estimation of historical effective population size (Ne) from linkage disequilibrium between loci. A recent refinement of methods to estimate historical Ne from the recent past has been shown to be rather accurate with simulation data. The method has also been applied to real data for numerous species. However, the simulation data cannot encompass all the complexities of real genomes, and the performance of any estimation method with real data is always uncertain, as the true demography of the populations is not known. Here, we carried out an experimental design with Drosophila melanogaster to test the method with real data following a known demographic history. We used a population maintained in the laboratory with a constant census size of about 2800 individuals and subjected the population to a drastic decline to a size of 100 individuals. After a few generations, the population was expanded back to the previous size and after a few further generations again expanded to twice the initial size. Estimates of historical Ne were obtained with the software GONE both for autosomal and X chromosomes from samples of 17 individuals sequenced for the whole genome. Estimates of the historical effective size were able to infer the patterns of changes that occurred in the populations showing generally good performance of the method. We discuss the limitations of the method and the application of the software carried out so far. [ABSTRACT FROM AUTHOR]

Multiple sequence alignment (MSA) is essential for understanding genetic variations controlling phenotypic traits in all living organisms. The post-analysis of MSA results is a difficult step for researchers who do not have programming skills. Especially those working with large scale data and looking for potential variations or variable sample groups. Generating bi-allelic data and the comparison of wild and alternative gene forms are important steps in population genetics. Customising MSA visualisation for a single page view is difficult, making viewing potential indels and variations challenging. There are currently no bioinformatics tools that permit post-MSA analysis, in which data on gene and single nucleotide scales could be combined with gene annotations and used for cluster analysis. We introduce "AlignStatPlot," a new R package and online tool that is well-documented and easy-to use for MSA and post-MSA analysis. This tool performs both traditional and cutting-edge analyses on sequencing data and generates new visualisation methods for MSA results. When compared to currently available tools, AlignStatPlot provides a robust ability to handle and visualise diversity data, while the online version will save time and encourage researchers to focus on explaining their findings. It is a simple tool that can be used in conjunction with population genetics software. [ABSTRACT FROM AUTHOR]

Background: Bisulfite sequencing is a powerful tool for profiling genomic methylation, an epigenetic modification critical in the understanding of cancer, psychiatric disorders, and many other conditions. Raw data generated by whole genome bisulfite sequencing (WGBS) requires several computational steps before it is ready for statistical analysis, and particular care is required to process data in a timely and memory-efficient manner. Alignment to a reference genome is one of the most computationally demanding steps in a WGBS workflow, taking several hours or even days with commonly used WGBS-specific alignment software. This naturally motivates the creation of computational workflows that can utilize GPU-based alignment software to greatly speed up the bottleneck step. In addition, WGBS produces raw data that is large and often unwieldy; a lack of memory-efficient representation of data by existing pipelines renders WGBS impractical or impossible to many researchers. Results: We present BiocMAP, a Bioconductor-friendly methylation analysis pipeline consisting of two modules, to address the above concerns. The first module performs computationally-intensive read alignment using Arioc, a GPU-accelerated short-read aligner. Since GPUs are not always available on the same computing environments where traditional CPU-based analyses are convenient, the second module may be run in a GPU-free environment. This module extracts and merges DNA methylation proportions—the fractions of methylated cytosines across all cells in a sample at a given genomic site. Bioconductor-based output objects in R utilize an on-disk data representation to drastically reduce required main memory and make WGBS projects computationally feasible to more researchers. Conclusions: BiocMAP is implemented using Nextflow and available at http://research.libd.org/BiocMAP/. To enable reproducible analysis across a variety of typical computing environments, BiocMAP can be containerized with Docker or Singularity, and executed locally or with the SLURM or SGE scheduling engines. By providing Bioconductor objects, BiocMAP's output can be integrated with powerful analytical open source software for analyzing methylation data. [ABSTRACT FROM AUTHOR]

Study of the genome of the SARS-CoV-2 virus, particularly with regard to understanding evolution of the virus, is crucial for managing the COVID-19 pandemic. To this end, we sample viral genomes from the GISAID repository and use several of the maximum likelihood approaches implemented in PAML, a collection of open source programs for phylogenetic analyses of DNA and protein sequences, to assess evidence for positive selection in the protein-coding regions of the SARS-CoV-2 genome. Across all major variants identified by June 2021, we find limited evidence for positive selection. In particular, we identify positive selection in a small proportion of sites (5-15%) in the protein-coding region of the spike protein across variants. Most other variants did not show a strong signal for positive selection overall, though there were indications of positive selection in the Delta and Kappa variants for the nucleocapsid protein. We additionally use a forward selection procedure to fit a model that allows branch-specific estimates of selection along a phylogeny relating the variants, and find that there is variation in the selective pressure across variants for the spike protein. Our results highlight the utility of computational approaches for identifying genomic regions under selection. [ABSTRACT FROM AUTHOR]

We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from South Asia, the Middle East and Europe. Using CNV calling software for short-read sequence data, we identified 3171 deletions and 489 duplications. Taking into account the known population history of the Roma, as inferred from whole genome nucleotide variation, we could discern how this history has shaped CNV variation. As expected, patterns of deletion variation, but not duplication, in the Roma followed those obtained from single nucleotide polymorphisms (SNPs). Reduced effective population size resulting in slightly relaxed natural selection may explain our observation of an increase in intronic (but not exonic) deletions within Loss of Function (LoF)-intolerant genes. Over-representation analysis for LoF-intolerant gene sets hosting intronic deletions highlights a substantial accumulation of shared biological processes in Roma, intriguingly related to signaling, nervous system and development features, which may be related to the known profile of private disease in the population. Finally, we show the link between deletions and known trait-related SNPs reported in the genome-wide association study (GWAS) catalog, which exhibited even frequency distributions among the studied populations. This suggests that, in general human populations, the strong association between deletions and SNPs associated to biomedical conditions and traits could be widespread across continental populations, reflecting a common background of potentially disease/trait-related CNVs. [ABSTRACT FROM AUTHOR]

Lumpfish, Cyclopterus lumpus, have historically been harvested throughout Atlantic Canada and are increasingly in demand as a solution to controlling sea lice in Atlantic salmon farms—a process which involves both the domestication and the transfer of lumpfish between geographic regions. At present, little is known regarding population structure and diversity of wild lumpfish in Atlantic Canada, limiting attempts to assess the potential impacts of escaped lumpfish individuals from salmon pens on currently at‐risk wild populations. Here, we characterize the spatial population structure and genomic‐environmental associations of wild populations of lumpfish throughout the Northwest Atlantic using both 70K SNP array data and whole‐genome re‐sequencing data (WGS). At broad spatial scales, our results reveal a large environmentally associated genetic break between the southern populations (Gulf of Maine and Bay of Fundy) and northern populations (Newfoundland and the Gulf of St. Lawrence), linked to variation in ocean temperature and ice cover. At finer spatial scales, evidence of population structure was also evident in a distinct coastal group in Newfoundland and significant isolation by distance across the northern region. Both evidence of consistent environmental associations and elevated genome‐wide variation in FST values among these three regional groups supports their biological relevance. This study represents the first extensive description of population structure of lumpfish in Atlantic Canada, revealing evidence of broad and fine geographic scale environmentally associated genomic diversity. Our results will facilitate the commercial use of lumpfish as a cleaner fish in Atlantic salmon aquaculture, the identification of lumpfish escapees, and the delineation of conservation units of this at‐risk species throughout Atlantic Canada. [ABSTRACT FROM AUTHOR]

Software Engineering is involved in all phases of the Software Development Life Cycle, implying a systematic and disciplined development process. Currently, there are optimization challenges within the phases and activities of Software Engineering, where a Genetic Programming (GP) approach can yield better results due to its individual representation. This Systematic Literature Review aims to analyze the current state of GP application in Software Engineering by identifying the phases and activities of software development where Genetic Programming has been applied and summarizing the advantages of using this technique. The results indicate that GP has been utilized in every phase of software development, predominantly in the construction phase. Moreover, Program Synthesis emerges as a promising area, significantly impacting new fields such as Genetic Improvement. [ABSTRACT FROM AUTHOR]

The objectives of this study are to explore the mechanism of pathogenic Aeromonas hydrophila XDMG strain infecting fish, and to compare its genome structure, function and evolutionary relationship with the reference strain. The whole genome of A. hydrophila XDMG strain was sequenced, and the original data obtained by sequencing were assembled, spliced and annotated using Newbler, SeqMan, Glimmer and other software. Based on the constructing phylogenetic tree analysis from housekeeping genes and determining evolutionary relationships, the genomes of A. hydrophila were compared with those of four A. hydrophila strains in different regions. The complete genome sequence of A. hydrophila XDMG strain was 4.99 Mb in length and the GC content was 60.84%. A total of 4 935 coding genes were predicted, 4 137 genes with clear function were found, 99 tRNAs and 3 rRNAs were found; 4 061 genes had ortholog family classification, 3 228 genes were related to gene ontology, and 2 663 genes related to metabolic pathways; 101 tandem repeats and 14 gene islands were predicted in the genome of A. hydrophila XDMG strain, with genes related to three QS systems: AI 1, AI 2, and AI 3. Through genome comparative analysis, A. hydrophila XDMG was closely related to domestic A. hydrophila J-1 strain and US-derived A. hydrophila AL0971 strain; it was more conserved with US-derived A. hydrophila AL0971 in the comparison of virulence genes, outer membrane proteins, and O-antigen gene clusters. Comprehensive genome annotation and comparative analysis of the genome of A. hydrophila XDMG strain provide basic data for the study of functional genomics and genetic engineering vaccines of A. hydrophila. [ABSTRACT FROM AUTHOR]

The alignment or mapping of Deoxyribonucleic Acid (DNA) reads produced by the new massively parallel sequencing machines is a fundamental initial step in the DNA analysis process. DNA alignment consists of ordering millions of short nucleotide sequences called reads, using a previously sequenced genome as a reference, to reconstruct the genetic code of a species. Even with the efforts made in the development of new multi-stage alignment programs, based on sophisticated algorithms and new filtering heuristics, the execution times remain limiting for the development of various applications such as epigenetics and genomic medicine. This paper presents an overview of recent developments in the acceleration of DNA alignment programs, with special emphasis on those based on hardware, in particular Graphics Processing Units (GPUs), Field Programmable Gate Arrays (FPGAs), and Processing-in-Memory (PIM) devices. Unlike most of the works found in the literature, which review only the proposals that gradually emerged in some specific acceleration technology, this work analyzes the contemporary state of the subject in a more comprehensive way, covering from the conception of the problem, the modern sequencing technologies and the analysis of the structure of the new alignment programs, to the most innovative software and hardware acceleration techniques. The foregoing allows to clearly define, at the end of the paper, the trends, challenges and opportunities that still prevail in the field. We hope that this work will serve as a guide for the development of new and more sophisticated DNA alignment systems. [ABSTRACT FROM AUTHOR]

DNA markers are indispensable tools in genetics and genomics research as well as in crop breeding, particularly for marker-assisted selection. Recent advances in next-generation sequencing technology have made it easier to obtain genome sequences for various crop species, enabling the large-scale identification of DNA polymorphisms among varieties, which in turn has made DNA marker design more accessible. However, existing primer design software is not suitable for designing many types of genome-wide DNA markers from next-generation sequencing data. Here, we describe the development of V-primer, high-throughput software for designing insertion/deletion, cleaved amplified polymorphic sequence, and single-nucleotide polymorphism (SNP) markers. We validated the applicability of these markers in different crops. In addition, we performed multiplex PCR targeted amplicon sequencing using SNP markers designed with V-primer. Our results demonstrate that V-primer facilitates the efficient and accurate design of primers and is thus a useful tool for genetics, genomics, and crop breeding. V-primer is freely available at https://github.com/ncod3/vprimer. [ABSTRACT FROM AUTHOR]

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