The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are imm...The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.展开更多
Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion...Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.展开更多
BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to th...BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.展开更多
The purpose of the present paper is to study and develop indicators and procedures for the evaluation of genetic structure changes in germplasm conservation due to social and natural environment reasons. Some basic ...The purpose of the present paper is to study and develop indicators and procedures for the evaluation of genetic structure changes in germplasm conservation due to social and natural environment reasons. Some basic concepts in germplasm study were introduced at first. Then, six kinds of indicators for genetic diversity as a measure of genetic potential of a germplasm collection were presented, i.e., numbers of different entities at certain level, evenness of the entity distribution, genetic similarity and genetic distance, genetic variance and genetic coefficient of variation, multivariate genetic variation indices, and coefficient of parentage. It was pointed out that genetic dispersion did not provide a complete concept of genetic diversity if without any information from genetic richness. Based on the above, the indicators for genetic erosion as the genetic structure changes of germplasm conservation due to social reasons, the indicators of genetic vulnerability as the genetic structure changes of germplasm conservation due to environmental stresses, the measurement of genetic drift and genetic shift as the genetic structure changes of germplasm collection during reproduction or seed increase were reviewed and developed. Furthermore, the estimation procedures of the indicators by using molecular markers were suggested. Finally, the case studies on suitable conservation sample size of self-pollinated and open-pollinated populations were given for reference.展开更多
Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique ...Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique to polyploidy.Despite genetic disparities between polyploids and diploids,challenges stem from reproductive anomalies,complicating genetic investigations in polyploid systems.Through nearly two decades of intensive research,our team has effectively generated a series of fertile tetraploid lines known as neo-tetraploid rice(NTR),facilitating comparative genetic studies between diploid and tetraploid rice.In this study,we identified diploid counterparts(H3d and H8d)for two NTR lines[Huaduo 3(H3)and Huaduo 8(H8)]and utilized them to create diploid and tetraploid fertile F_(2) populations to assess genotype segregation ratios,recombination rates,and their impact on QTL mapping via bulked segregant analysis combined with sequencing(BSA-seq).Additionally,we assessed yield heterosis in F_(1) and F_(2) generations of two tetraploid populations(H3×H8 and T449×H1),revealing evidence of multi-generation heterosis in polyploid rice.These findings provide valuable insights into the advantages and challenges of polyploid rice breeding.展开更多
Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical ...Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical assessments,endoscopic evaluations,imaging studies,and biomarker testing,where early diagnosis is essential for effective management and prevention of long-term complications,highlighting the need for continual advancements in diagnostic methods.The intricate interplay between genetic factors and the outcomes of biological therapy is of critical importance.Unraveling the genetic determinants that influence responses and failures to biological therapy holds significant promise for optimizing treatment strategies for patients with IBD on biologics.Through an indepth examination of current literature,this review article synthesizes critical genetic markers associated with therapeutic efficacy and resistance in IBD.Understanding these genetic actors paves the way for personalized approaches,informing clinicians on predicting,tailoring,and enhancing the effectiveness of biological therapies for improved outcomes in patients with IBD.展开更多
Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathoge...Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathogenesis.Herein,we review the current progress in genetics and epigenetics to examine genetic variants,susceptibility factors,and the epigenetic regulatory mechanisms implicated in CS.Through an analysis of diverse genetic markers,chromosomal abnormalities,and epigenetic modifications,the correlation between genetic predisposition and environmental influences in CS pathogenesis is elucidated.By integrating these genetic and epigenetic findings,this study aims to clarify the underlying etiology of CS to provide guidance on future clinical interventions and promote the development of personalized therapeutic strategies.展开更多
The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yi...The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yields,which have been documented at commercial mussel farms in the United Kingdom,the United States of America,Canada,Spain,New Zealand and China.Byssus is an important attachment structure for marine mussels,and weakness in byssal thread attachment is a major factor leading to mussel detachment from ropes.To investigate the relationship between genetic variability and byssal thread phenotypic characteristics in the hard-shelled mussel(Mytilus coruscus),we collected three wild populations of M.coruscus from different latitudes in the East China Sea,including the Shengsi(SS),Jiaojiang(JJ),and Fuding(FD)populations.The genetic diversity and structure of these populations were investigated using 10 microsatellite loci.The mean observed heterozygosity(Ho)in the SS population was 0.44,higher than the mean Ho values of the JJ(0.40)and FD(0.39)populations.The mean inbreeding coefficients(F_(is))in the SS population was 0.20,lower than the mean F_(is)values of the JJ(0.33)and FD populations(0.40).These results revealed that the SS population exhibited higher genetic diversity compared to the other two populations.The different numbers of private alleles(P_(a))in the three populations,ranging from 10 to 17,suggest that these populations have experienced selective pressures from various environments.Moreover,genetic differentiation was observed in the genetic distance between the SS population and the other two populations.We also examined the phenotypic characteristics of their byssal threads.There were significant differences in byssus attachment strength among the three populations,with the SS population located at the highest latitude secreting more byssal threads and exhibiting greater byssal breaking force and plaque adhesion strength,while the Fuding(FD)population located at the lowest latitude had the weakest byssal attachment.The observed differentiation in private alleles and byssus phenotypes might suggest that the three wild populations have experienced different environmental selective pressures.This study provides insight for future genetic enhancement programs aimed at improving byssus attachment in M.coruscus.展开更多
Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimenta...Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimental data by using developmental genetic models and corresponding statistical approaches for quantitative traits of seeds in cereal crops. It was indicated that the genetic main effects and their GE interaction effects of triploid endosperm, cytoplasmic and diploid maternal plant genes were important for BRW at different filling stages of rice, especially for endosperm or maternal additive main effects and their additive interaction effects. Because of the higher additive effects and additive interaction effects for BRW at different filling stages, the better improving effects for this trait could be expected by selection in rice breeding. The results of conditional genetic variance components showed that the new expression of quantitative genes in endosperm and maternal plant for BRW was mostly found at all different filling stages of rice. The gene expression, however, was most active at the early filling stages especially for the first (1-7 d) and the second filling stages (8-14 d after flowering). The phenomena that some genes were spasmodically expressible among filling stages of rice were detected for some genetic effects especially for net cytoplasmic main effects or its interaction effects and net dominance main effects. Predicted genetic effects at different filling stages of rice showed that some parents such as V20 and Zuo 5 were better than others for improving the BRW.展开更多
Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two cons...Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.展开更多
Genome rearrangement is an important process that leads to genetic diversity,including mutation-related insertions,deletions,or inversions in the genome[1,2].
The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as he...The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.展开更多
Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective ...Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective breeding.However,most current research focuses on one or two breeds,and lacks a comprehensive representa-tion of the genetic diversity across multiple Tibetan sheep breeds.This study aims to fill this gap by investigating the genetic structure,diversity and high-altitude adaptation of 6 Tibetan sheep breeds using whole-genome rese-quencing data.Results Six Tibetan sheep breeds were investigated in this study,and whole-genome resequencing data were used to investigate their genetic structure and population diversity.The results showed that the 6 Tibetan sheep breeds exhibited distinct separation in the phylogenetic tree;however,the levels of differentiation among the breeds were minimal,with extensive gene flow observed.Population structure analysis broadly categorized the 6 breeds into 3 distinct ecological types:plateau-type,valley-type and Euler-type.Analysis of unique single-nucleotide polymor-phisms(SNPs)and selective sweeps between Argali and Tibetan sheep revealed that Tibetan sheep domestication was associated primarily with sensory and signal transduction,nutrient absorption and metabolism,and growth and reproductive characteristics.Finally,comprehensive analysis of selective sweep and transcriptome data sug-gested that Tibetan sheep breeds inhabiting different altitudes on the Qinghai–Tibet Plateau adapt by enhancing cardiopulmonary function,regulating body fluid balance through renal reabsorption,and modifying nutrient diges-tion and absorption pathways.Conclusion In this study,we investigated the genetic diversity and population structure of 6 Tibetan sheep breeds in Qinghai Province,China.Additionally,we analyzed the domestication traits and investigated the unique adapta-tion mechanisms residing varying altitudes in the plateau region of Tibetan sheep.This study provides valuable insights into the evolutionary processes of Tibetan sheep in extreme environments.These findings will also contribute to the preservation of genetic diversity and offer a foundation for Tibetan sheep diversity preservation and plateau animal environmental adaptation mechanisms.展开更多
Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental grad...Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental gradients can influence this diversity through mechanisms such as gene flow, selection, and genetic drift. To explore how these forces interact, we assessed neutral and adaptive genetic variation in three widely distributed and two narrowly distributed bird species co-occurring along the Cauca River canyon in Antioquia, Colombia—a region of pronounced environmental heterogeneity. We sampled individuals across eight sites spanning the canyon's gradient and analyzed genetic diversity and structure using microsatellites and toll-like receptors (TLRs), a gene family involved in innate immunity. Widely distributed species consistently exhibited higher genetic diversity at both marker types compared to their narrowly distributed counterparts. Although we did not find a significant relationship between microsatellite heterozygosity and TLR heterozygosity, we evidenced a negative trend for widely distributed species and a positive trend for narrowly distributed species. This result suggests that there is a stronger effect of genetic drift in narrowly distributed species. Our results highlight the role of distribution range in maintaining genetic diversity and suggest that environmental gradients, by interacting with gene flow and selection, may influence patterns of adaptive variation.展开更多
This study evaluates the undrained uplift capacity of open-caisson anchors embedded in anisotropic clay using Finite Element Limit Analysis(FELA)and a hybrid machine learning framework.The FELA simulations inves-tigat...This study evaluates the undrained uplift capacity of open-caisson anchors embedded in anisotropic clay using Finite Element Limit Analysis(FELA)and a hybrid machine learning framework.The FELA simulations inves-tigate the influence of the radius ratio(R/B),anisotropic ratio(re),interface roughness factor(α),and inclination angle(β).Specifically,the results reveal that increasingβsignificantly enhances Nc,especially as soil behavior approaches isotropy.Higherαimproves resistance at steeper inclinations by mobilizing greater interface shear.Nc increases with re,reflecting enhanced strength under isotropic conditions.To enhance predictive accuracy and generalization,a hybrid machine learning model was developed by integrating Extreme Gradient Boosting(XGBoost)with Genetic Algorithm(GA)and Mutation-Based Genetic Algorithm(MGA)for hyperparameter tuning.Among the models,MGA-XGBoost outperformed GA-XGBoost,achieving higher predictive accuracy(R^(2)=0.996 training,0.993 testing).Furthermore,SHAP analysis consistently identified anisotropic ratio(re)as the most influential factor in predicting uplift capacity,followed by interface roughness factor(α),inclination angle(β),and radius ratio(R/B).The proposed framework serves as a scalable decision-support tool adaptable to various soil types and foundation geometries,offering a more efficient and data-driven approach to uplift-resistant design in anisotropic cohesive soils.展开更多
The study by Dos Santos et al marks a significant advancement in understanding the genetics of colorectal polyposis,particularly within the underrepresented Brazilian population.Utilizing whole-exome sequencing in 27 ...The study by Dos Santos et al marks a significant advancement in understanding the genetics of colorectal polyposis,particularly within the underrepresented Brazilian population.Utilizing whole-exome sequencing in 27 patients with unexplained polyposis,the researchers identified 16 candidate genes in 44.4%of cases-an impressive outcome given strict exclusion criteria.Many identified variants were linked to the Wnt/β-catenin signaling pathway,reinforcing their biological relevance.However,the study underscores key challenges in genomic medicine,especially the gap between gene discovery and clinical application.A substantial proportion of variants(60.1%)were classified as of uncertain sig-nificance,and the absence of functional validation or segregation analysis limits clinical interpretation.Notably,the potential for oligogenic inheritance com-plicates traditional monogenic models of hereditary cancer risk.The study’s focus on a genetically diverse Brazilian cohort emphasizes the need for population-specific genomic resources and interpretation guidelines.Moving forward,func-tional studies,including organoid models,loss-of-heterozygosity analyses,and genotype-phenotype correlations,are essential to validate findings.Clinically,discovering novel candidate genes may inform future screening and testing pro-tocols,though careful consideration is needed to manage uncertain results.Overall,the study represents a critical step in polyposis genetics,highlighting both progress made and the work still required for clinical translation.展开更多
Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations ...Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations in DNA mismatch repair(MMR)genes,including MLH1,MSH2,MSH6 and PMS2.These mutations lead to microsatellite instability(MSI)and defective DNA repair mechanisms,resulting in increased cancer risk.Early detection of LS is crucial for effective management and cancer prevention.Endoscopic surveillance,particularly regular colonoscopy,is recommended for individuals with LS to detect CRC at early stages.Additionally,universal screening of CRC for MMR deficiency can help identify at-risk individuals.Genetic counseling plays a valuable role in LS by guiding patients and their families in understanding the genetic basis,making informed decisions regarding surveillance and prevention,and offering reproductive options to reduce the transmission of pathogenic variants of the offspring.The aim of this review is to outline current strategies for the diagnosis,surveillance,and management of LS,with a focus on the role of genetic counseling,endoscopic screening,and emerging therapeutic approaches to mitigate cancer risk in affected individuals.展开更多
Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and a...Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and animals.The Bocaparvovirus genome.展开更多
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu...Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.展开更多
To address the shortcomings of traditional Genetic Algorithm (GA) in multi-agent path planning, such as prolonged planning time, slow convergence, and solution instability, this paper proposes an Asynchronous Genetic ...To address the shortcomings of traditional Genetic Algorithm (GA) in multi-agent path planning, such as prolonged planning time, slow convergence, and solution instability, this paper proposes an Asynchronous Genetic Algorithm (AGA) to solve multi-agent path planning problems effectively. To enhance the real-time performance and computational efficiency of Multi-Agent Systems (MAS) in path planning, the AGA incorporates an Equal-Size Clustering Algorithm (ESCA) based on the K-means clustering method. The ESCA divides the primary task evenly into a series of subtasks, thereby reducing the gene length in the subsequent GA process. The algorithm then employs GA to solve each subtask sequentially. To evaluate the effectiveness of the proposed method, a simulation program was designed to perform path planning for 100 trajectories, and the results were compared with those of State-Of-The-Art (SOTA) methods. The simulation results demonstrate that, although the solutions provided by AGA are suboptimal, it exhibits significant advantages in terms of execution speed and solution stability compared to other algorithms.展开更多
文摘The etiopathogenesis of gastrointestinal diseases is varied in nature.Various etiogenic factors described are infective,inflammatory,viral,bacterial,parasitic,dietary and lifestyle change.Rare causative agents are immunological,and others associated as idiopathic,are undiagnosed by all possible means.Some of the rare diseases are congenital in nature,passing from the parent to the child.Many of the undiagnosed diseases are now being diagnosed as genetic and the genes have been implicated as a causative agent.There is a search for newer treatments for such diseases,which is called genomic medicine.Genomic medicine is an emerging medical discipline that involves the use of genomic information about an individual.This is used both for diagnostic as well as therapeutic decisions to improve the current health domain and pave the way for policymakers for its clinical use.In the developing era of precision medicine,genomics,epigenomics,environmental exposure,and other data would be used to more accurately guide individual diagnosis and treatment.Genomic medicine is already making an impact in the fields of oncology,pharmacology,rare,infectious and many undiagnosed diseases.It is beginning to fuel new approaches in certain medical specialties.Oncology is at the leading edge of incorporating genomics,as diagnostics for genetic and genomic markers are increasingly included in cancer screening,and to guide tailored treatment strategies.Genetics and genetic medicine have been reported to play a role in gastroenterology in several ways,including genetic testing(hereditary pancreatitis and hereditary gastrointestinal cancer syndromes).Genetic testing can also help subtype diseases,such as classifying pancreatitis as idiopathic or hereditary.Gene therapy is a promising approach for treating gastrointestinal diseases that are not effectively treated by conventional pharmaceuticals and surgeries.Gene therapy strategies include gene addition,gene editing,messenger RNA therapy,and gene silencing.Understanding genetic determinants,advances in genetics,have led to a better understanding of the genetic factors that contribute to human disease.Family-member risk stratification and genetic diagnosis can help identify family members who are at risk,which can lead to preventive treatments,lifestyle recommendations,and routine follow ups.Selecting target genes helps identify the gene targets associated with each gastrointestinal disease.Common gastrointestinal diseases associated with genetic abnormalities include-inflammatory bowel disease,gastroesophageal reflux disease,non-alcoholic fatty liver disease,and irritable bowel syndrome.With advancing tools and technology,research in the search of newer and individualized treatment,genes and genetic medicines are expected to play a significant role in human health and gastroenterology.
文摘Aiming to solve the steering instability and hysteresis of agricultural robots in the process of movement,a fusion PID control method of particle swarm optimization(PSO)and genetic algorithm(GA)was proposed.The fusion algorithm took advantage of the fast optimization ability of PSO to optimize the population screening link of GA.The Simulink simulation results showed that the convergence of the fitness function of the fusion algorithm was accelerated,the system response adjustment time was reduced,and the overshoot was almost zero.Then the algorithm was applied to the steering test of agricultural robot in various scenes.After modeling the steering system of agricultural robot,the steering test results in the unloaded suspended state showed that the PID control based on fusion algorithm reduced the rise time,response adjustment time and overshoot of the system,and improved the response speed and stability of the system,compared with the artificial trial and error PID control and the PID control based on GA.The actual road steering test results showed that the PID control response rise time based on the fusion algorithm was the shortest,about 4.43 s.When the target pulse number was set to 100,the actual mean value in the steady-state regulation stage was about 102.9,which was the closest to the target value among the three control methods,and the overshoot was reduced at the same time.The steering test results under various scene states showed that the PID control based on the proposed fusion algorithm had good anti-interference ability,it can adapt to the changes of environment and load and improve the performance of the control system.It was effective in the steering control of agricultural robot.This method can provide a reference for the precise steering control of other robots.
基金Supported by the Research Grants of the National Research,Development and Innovation Office,No.K125377,No.K134863 and No.K143549New National Excellence Program of the Ministry of Human Capacities,No.UNKP-20-5-SZTE-161,No.UNKP-22-3-SZTE-233,No.UNKP-23-5-SZTE-719,No.UNKP-22-4-SZTE-296 and No.UNKP-22-3-SZTE-278+1 种基金Janos Bolyai Research Grant,No.BO/00723/22the Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School,University of Szeged.
文摘BACKGROUND Familial adenomatous polyposis(FAP)is a disorder of autosomal dominant inheritance that is responsible for around 1%of colorectal cancer(CRC)cases.AIM To determine the mutation profile of FAP-specific to the Hungarian population.METHODS This prospective single-center study enrolled patients with clinically suspected FAP or attenuated FAP(aFAP).Whole-exome next-generation sequencing was performed to detect variants of 50 FAP priority genes and 173 CRC predisposing genes or other CRC disease-associated genes.To identify larger deletions and insertions,a multiplex amplifiable probe hybridization technique was used.The identified genes were then classified according to the American College of Medical Genetics and Genomics guidelines.RESULTS A total of 26 index patients with clinically suspected FAP(n=21)and aFAP(n=5)were enrolled.APC gene alterations were confirmed in 92.31%of the cases(region 1B deletion,n=2;whole-gene deletion,n=4;frameshift mutation,n=2;nonsense mutation,n=5,and splice mutation,n=1),with the remaining two cases having CHEK2 and MSH3 gene alterations.According to pathogenicity,21 cases had pathogenic mutations,6 cases had likely pathogenic mutations,and 16 cases had variants of unknown significance(VUS).The most frequent of the latter were the POLE(n=5)and PIEZO1(n=4)gene variants.CONCLUSION Germline mutations in the APC gene were confirmed in more than 90%of Hungarian patients with clinically suspected FAP.Although the role of VUS genes is unclear,they are highly likely to play a role in the development of CRC.
基金supported by the National Natural Science Foundation of China(30270805 and 30490250)Doctorate Foundation of Higher Education(20020307028).
文摘The purpose of the present paper is to study and develop indicators and procedures for the evaluation of genetic structure changes in germplasm conservation due to social and natural environment reasons. Some basic concepts in germplasm study were introduced at first. Then, six kinds of indicators for genetic diversity as a measure of genetic potential of a germplasm collection were presented, i.e., numbers of different entities at certain level, evenness of the entity distribution, genetic similarity and genetic distance, genetic variance and genetic coefficient of variation, multivariate genetic variation indices, and coefficient of parentage. It was pointed out that genetic dispersion did not provide a complete concept of genetic diversity if without any information from genetic richness. Based on the above, the indicators for genetic erosion as the genetic structure changes of germplasm conservation due to social reasons, the indicators of genetic vulnerability as the genetic structure changes of germplasm conservation due to environmental stresses, the measurement of genetic drift and genetic shift as the genetic structure changes of germplasm collection during reproduction or seed increase were reviewed and developed. Furthermore, the estimation procedures of the indicators by using molecular markers were suggested. Finally, the case studies on suitable conservation sample size of self-pollinated and open-pollinated populations were given for reference.
基金supported by the National Key Resarch and Development Program of China(Grant No.2023YFD1200802)the Base Bank of Lingnan Rice Germplasm Resources Project,China(Grant No.2024B1212060009).
文摘Polyploidization is a commonly employed strategy in crop breeding to augment genetic diversity,particularly leveraging the distinctive benefits of additional progressive heterosis or multi-generation heterosis unique to polyploidy.Despite genetic disparities between polyploids and diploids,challenges stem from reproductive anomalies,complicating genetic investigations in polyploid systems.Through nearly two decades of intensive research,our team has effectively generated a series of fertile tetraploid lines known as neo-tetraploid rice(NTR),facilitating comparative genetic studies between diploid and tetraploid rice.In this study,we identified diploid counterparts(H3d and H8d)for two NTR lines[Huaduo 3(H3)and Huaduo 8(H8)]and utilized them to create diploid and tetraploid fertile F_(2) populations to assess genotype segregation ratios,recombination rates,and their impact on QTL mapping via bulked segregant analysis combined with sequencing(BSA-seq).Additionally,we assessed yield heterosis in F_(1) and F_(2) generations of two tetraploid populations(H3×H8 and T449×H1),revealing evidence of multi-generation heterosis in polyploid rice.These findings provide valuable insights into the advantages and challenges of polyploid rice breeding.
基金Supported by The European Union-Next Generation EU,through the National Recovery and Resilience Plan of the Republic of Bulgaria,No.BG-RRP-2.004-0008。
文摘Inflammatory bowel disease(IBD)represents a significant disease burden marked by chronic inflammation and complications that adversely affect patients’quality of life.Effective diagnostic strategies involve clinical assessments,endoscopic evaluations,imaging studies,and biomarker testing,where early diagnosis is essential for effective management and prevention of long-term complications,highlighting the need for continual advancements in diagnostic methods.The intricate interplay between genetic factors and the outcomes of biological therapy is of critical importance.Unraveling the genetic determinants that influence responses and failures to biological therapy holds significant promise for optimizing treatment strategies for patients with IBD on biologics.Through an indepth examination of current literature,this review article synthesizes critical genetic markers associated with therapeutic efficacy and resistance in IBD.Understanding these genetic actors paves the way for personalized approaches,informing clinicians on predicting,tailoring,and enhancing the effectiveness of biological therapies for improved outcomes in patients with IBD.
基金Supported by the National Natural Science Foundation of China,No.82460940Major Project of Gansu Province Joint Fund,No.23JRRA1519+2 种基金Key Science and Technology Project of Gansu Province,No.21ZD4FA009Natural Science Foundation of Gansu Province,No.24JRRA1040Gansu Province Famous Traditional Chinese Medicine Inheritance Studio Project。
文摘Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathogenesis.Herein,we review the current progress in genetics and epigenetics to examine genetic variants,susceptibility factors,and the epigenetic regulatory mechanisms implicated in CS.Through an analysis of diverse genetic markers,chromosomal abnormalities,and epigenetic modifications,the correlation between genetic predisposition and environmental influences in CS pathogenesis is elucidated.By integrating these genetic and epigenetic findings,this study aims to clarify the underlying etiology of CS to provide guidance on future clinical interventions and promote the development of personalized therapeutic strategies.
文摘The mussel is one of the main cultivated species in the world.A significant challenge faced by suspension-cultured mussels is the high incidence of mussel fall-off from cultivation ropes,adversely impacting harvest yields,which have been documented at commercial mussel farms in the United Kingdom,the United States of America,Canada,Spain,New Zealand and China.Byssus is an important attachment structure for marine mussels,and weakness in byssal thread attachment is a major factor leading to mussel detachment from ropes.To investigate the relationship between genetic variability and byssal thread phenotypic characteristics in the hard-shelled mussel(Mytilus coruscus),we collected three wild populations of M.coruscus from different latitudes in the East China Sea,including the Shengsi(SS),Jiaojiang(JJ),and Fuding(FD)populations.The genetic diversity and structure of these populations were investigated using 10 microsatellite loci.The mean observed heterozygosity(Ho)in the SS population was 0.44,higher than the mean Ho values of the JJ(0.40)and FD(0.39)populations.The mean inbreeding coefficients(F_(is))in the SS population was 0.20,lower than the mean F_(is)values of the JJ(0.33)and FD populations(0.40).These results revealed that the SS population exhibited higher genetic diversity compared to the other two populations.The different numbers of private alleles(P_(a))in the three populations,ranging from 10 to 17,suggest that these populations have experienced selective pressures from various environments.Moreover,genetic differentiation was observed in the genetic distance between the SS population and the other two populations.We also examined the phenotypic characteristics of their byssal threads.There were significant differences in byssus attachment strength among the three populations,with the SS population located at the highest latitude secreting more byssal threads and exhibiting greater byssal breaking force and plaque adhesion strength,while the Fuding(FD)population located at the lowest latitude had the weakest byssal attachment.The observed differentiation in private alleles and byssus phenotypes might suggest that the three wild populations have experienced different environmental selective pressures.This study provides insight for future genetic enhancement programs aimed at improving byssus attachment in M.coruscus.
文摘Analysis of genetic main effects and genotype x environment (GE) interaction effects for brown rice weight (BRW) at four different filling stages in indica lice (Oryza sativa L.) was conducted for two-year experimental data by using developmental genetic models and corresponding statistical approaches for quantitative traits of seeds in cereal crops. It was indicated that the genetic main effects and their GE interaction effects of triploid endosperm, cytoplasmic and diploid maternal plant genes were important for BRW at different filling stages of rice, especially for endosperm or maternal additive main effects and their additive interaction effects. Because of the higher additive effects and additive interaction effects for BRW at different filling stages, the better improving effects for this trait could be expected by selection in rice breeding. The results of conditional genetic variance components showed that the new expression of quantitative genes in endosperm and maternal plant for BRW was mostly found at all different filling stages of rice. The gene expression, however, was most active at the early filling stages especially for the first (1-7 d) and the second filling stages (8-14 d after flowering). The phenomena that some genes were spasmodically expressible among filling stages of rice were detected for some genetic effects especially for net cytoplasmic main effects or its interaction effects and net dominance main effects. Predicted genetic effects at different filling stages of rice showed that some parents such as V20 and Zuo 5 were better than others for improving the BRW.
基金supported by Diabetes Talent Research Project of China,International Medical Foundation 2019(No.2018-N-1).
文摘Background The molecular mechanisms of early-onset multigenerational diabetes remain unknown.This study aimed to investigate the clinical and genetic characteristics of early-onset diabetes involving at least two consecutive generations.Methods From 1296 inpatients with diabetes,we selected individuals who were≤30 years of age and who were clinically suspected of having familial monogenic diabetes.Clinical data were collected from the probands and their family members.Whole-exome sequencing(WES)was used to identify possible causal variants for diabetes.Candidate pathogenic variants were verified by Sanger sequencing,assessed for cosegregation in family members,and evaluated on the basis of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(ACMG/AMP)guidelines.Moreover,missense and synonymous variants were subjected to in silico pathogenicity prediction via MutationTaster and PolyPhen-2.RNAfold was used to predict RNA structural alterations for synonymous variants.Results Twenty-five early-onset diabetes patients with a history of familial diabetes were enrolled.Pathogenic/likely pathogenic variants(p.Gly292fs in HNF1A,p.Gly245Argfs*22 in PDX1,p.Asp329His in KCNJ11,p.Leu734Phe and p.Val606Gly in WFS1)were detected in four patients,who were diagnosed accurately and treated with reasonable hypoglycemic agents based on genetic testing results.The variants of uncertain significance(ABCC8 c.3039 G>A(p.Ser1013=Ser),MAPK8IP1 p.Gln144_Gly145insSerGln,and TBC1D4 p.Arg1249Trp)were identified in three probands.Conclusion Patients with early-onset diabetes involving at least two consecutive generations may harbor genetic variants.Genetic testing in this population enables precision diagnosis,informs individualized treatment,and facilitates genetic counseling.
基金supported by grants(92168103,32171417,2019CXJQ01)from the National Nature Science Foundation of China,Shanghai Municipal GovernmentPeak Disciplines(Type IV)of Institutions of Higher Learning in Shanghai.
文摘Genome rearrangement is an important process that leads to genetic diversity,including mutation-related insertions,deletions,or inversions in the genome[1,2].
文摘The relationship between genetics and infectious diseases is important in shaping our understanding of disease susceptibility,progression,and treatment.Recent research shows the impact of genetic variations,such as heme-oxygenase promoter length,on diseases like malaria and sepsis,revealing both protective and inconclusive effects.Studies on vaccine responses highlight genetic markers like human leukocyte antigens,emphasizing the potential for personalized immunization strategies.The ongoing battle against drug-resistant tuberculosis(TB)illustrates the complexity of genomic variants in predicting resistance,highlighting the need for integrated diagnostic tools.Additionally,genome-wide association studies reveal antibiotic resistance mechanisms in bacterial genomes,while host genetic polymorphisms,such as those in solute carrier family 11 member 1 and vitamin D receptor,demonstrate their role in TB susceptibility.Advanced techniques like metagenomic next-generation sequencing promise detailed pathogen detection but face challenges in cost and accessibility.A case report involving a highly virulent Mycobacterium TB strain with the pks1 gene further highlights the need for genetic insights in understanding disease severity and developing targeted interventions.This evolving landscape emphasizes the role of genetics in infectious diseases,while also addressing the need for standardized studies and accessible technologies.
基金supported by the Natural Science Foundation of Qinghai Province(No.2022-ZJ-901)the National Breeding Joint Research Project。
文摘Introduction Tibetan sheep,economically important animals on the Qinghai–Tibet Plateau,have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective breeding.However,most current research focuses on one or two breeds,and lacks a comprehensive representa-tion of the genetic diversity across multiple Tibetan sheep breeds.This study aims to fill this gap by investigating the genetic structure,diversity and high-altitude adaptation of 6 Tibetan sheep breeds using whole-genome rese-quencing data.Results Six Tibetan sheep breeds were investigated in this study,and whole-genome resequencing data were used to investigate their genetic structure and population diversity.The results showed that the 6 Tibetan sheep breeds exhibited distinct separation in the phylogenetic tree;however,the levels of differentiation among the breeds were minimal,with extensive gene flow observed.Population structure analysis broadly categorized the 6 breeds into 3 distinct ecological types:plateau-type,valley-type and Euler-type.Analysis of unique single-nucleotide polymor-phisms(SNPs)and selective sweeps between Argali and Tibetan sheep revealed that Tibetan sheep domestication was associated primarily with sensory and signal transduction,nutrient absorption and metabolism,and growth and reproductive characteristics.Finally,comprehensive analysis of selective sweep and transcriptome data sug-gested that Tibetan sheep breeds inhabiting different altitudes on the Qinghai–Tibet Plateau adapt by enhancing cardiopulmonary function,regulating body fluid balance through renal reabsorption,and modifying nutrient diges-tion and absorption pathways.Conclusion In this study,we investigated the genetic diversity and population structure of 6 Tibetan sheep breeds in Qinghai Province,China.Additionally,we analyzed the domestication traits and investigated the unique adapta-tion mechanisms residing varying altitudes in the plateau region of Tibetan sheep.This study provides valuable insights into the evolutionary processes of Tibetan sheep in extreme environments.These findings will also contribute to the preservation of genetic diversity and offer a foundation for Tibetan sheep diversity preservation and plateau animal environmental adaptation mechanisms.
基金funded by the Empresas Públicas de Medellín and Universidad de Antioquia.
文摘Understanding the evolutionary processes that influence the distribution of genetic diversity in natural populations is a key issue in evolutionary biology. Both species' distribution ranges and environmental gradients can influence this diversity through mechanisms such as gene flow, selection, and genetic drift. To explore how these forces interact, we assessed neutral and adaptive genetic variation in three widely distributed and two narrowly distributed bird species co-occurring along the Cauca River canyon in Antioquia, Colombia—a region of pronounced environmental heterogeneity. We sampled individuals across eight sites spanning the canyon's gradient and analyzed genetic diversity and structure using microsatellites and toll-like receptors (TLRs), a gene family involved in innate immunity. Widely distributed species consistently exhibited higher genetic diversity at both marker types compared to their narrowly distributed counterparts. Although we did not find a significant relationship between microsatellite heterozygosity and TLR heterozygosity, we evidenced a negative trend for widely distributed species and a positive trend for narrowly distributed species. This result suggests that there is a stronger effect of genetic drift in narrowly distributed species. Our results highlight the role of distribution range in maintaining genetic diversity and suggest that environmental gradients, by interacting with gene flow and selection, may influence patterns of adaptive variation.
文摘This study evaluates the undrained uplift capacity of open-caisson anchors embedded in anisotropic clay using Finite Element Limit Analysis(FELA)and a hybrid machine learning framework.The FELA simulations inves-tigate the influence of the radius ratio(R/B),anisotropic ratio(re),interface roughness factor(α),and inclination angle(β).Specifically,the results reveal that increasingβsignificantly enhances Nc,especially as soil behavior approaches isotropy.Higherαimproves resistance at steeper inclinations by mobilizing greater interface shear.Nc increases with re,reflecting enhanced strength under isotropic conditions.To enhance predictive accuracy and generalization,a hybrid machine learning model was developed by integrating Extreme Gradient Boosting(XGBoost)with Genetic Algorithm(GA)and Mutation-Based Genetic Algorithm(MGA)for hyperparameter tuning.Among the models,MGA-XGBoost outperformed GA-XGBoost,achieving higher predictive accuracy(R^(2)=0.996 training,0.993 testing).Furthermore,SHAP analysis consistently identified anisotropic ratio(re)as the most influential factor in predicting uplift capacity,followed by interface roughness factor(α),inclination angle(β),and radius ratio(R/B).The proposed framework serves as a scalable decision-support tool adaptable to various soil types and foundation geometries,offering a more efficient and data-driven approach to uplift-resistant design in anisotropic cohesive soils.
文摘The study by Dos Santos et al marks a significant advancement in understanding the genetics of colorectal polyposis,particularly within the underrepresented Brazilian population.Utilizing whole-exome sequencing in 27 patients with unexplained polyposis,the researchers identified 16 candidate genes in 44.4%of cases-an impressive outcome given strict exclusion criteria.Many identified variants were linked to the Wnt/β-catenin signaling pathway,reinforcing their biological relevance.However,the study underscores key challenges in genomic medicine,especially the gap between gene discovery and clinical application.A substantial proportion of variants(60.1%)were classified as of uncertain sig-nificance,and the absence of functional validation or segregation analysis limits clinical interpretation.Notably,the potential for oligogenic inheritance com-plicates traditional monogenic models of hereditary cancer risk.The study’s focus on a genetically diverse Brazilian cohort emphasizes the need for population-specific genomic resources and interpretation guidelines.Moving forward,func-tional studies,including organoid models,loss-of-heterozygosity analyses,and genotype-phenotype correlations,are essential to validate findings.Clinically,discovering novel candidate genes may inform future screening and testing pro-tocols,though careful consideration is needed to manage uncertain results.Overall,the study represents a critical step in polyposis genetics,highlighting both progress made and the work still required for clinical translation.
文摘Lynch syndrome(LS),also known as hereditary non-polyposis colorectal cancer(HNPCC),is an inherited condition associated with a higher risk of colorectal cancer(CRC)and other cancers.It is caused by germline mutations in DNA mismatch repair(MMR)genes,including MLH1,MSH2,MSH6 and PMS2.These mutations lead to microsatellite instability(MSI)and defective DNA repair mechanisms,resulting in increased cancer risk.Early detection of LS is crucial for effective management and cancer prevention.Endoscopic surveillance,particularly regular colonoscopy,is recommended for individuals with LS to detect CRC at early stages.Additionally,universal screening of CRC for MMR deficiency can help identify at-risk individuals.Genetic counseling plays a valuable role in LS by guiding patients and their families in understanding the genetic basis,making informed decisions regarding surveillance and prevention,and offering reproductive options to reduce the transmission of pathogenic variants of the offspring.The aim of this review is to outline current strategies for the diagnosis,surveillance,and management of LS,with a focus on the role of genetic counseling,endoscopic screening,and emerging therapeutic approaches to mitigate cancer risk in affected individuals.
基金supported by the Natural Science Foundation of Sichuan Province,China(2024NSFSC1272)the Innovation Team Development Funds for Sichuan Mutton Goat&Sheep,China(SCCXTD-2024-14)Scientific and Technological Innovation Team for Qinghai-Tibetan Plateau Research in Southwest Minzu University,China(2024CXTD08)。
文摘Bocapavovirus,a member of the genus Bocaparvovirus within the subfamily Parvovirinae and the family Parvoviridae,is a small,non-enveloped,single-stranded DNA virus.This pathogen poses health risks to both humans and animals.The Bocaparvovirus genome.
基金National Key Research and Development Program for Young scientists,Grant/Award Number:2021YFF0703200National Natural Foundation Joint Fund for Regional Innovation and Development,Grant/Award Number:U21A20194+1 种基金National Natural Science Foundation of China,Grant/Award Number:32170540National Key Research and Development Program,Grant/Award Number:2022YFF0711005。
文摘Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.
文摘To address the shortcomings of traditional Genetic Algorithm (GA) in multi-agent path planning, such as prolonged planning time, slow convergence, and solution instability, this paper proposes an Asynchronous Genetic Algorithm (AGA) to solve multi-agent path planning problems effectively. To enhance the real-time performance and computational efficiency of Multi-Agent Systems (MAS) in path planning, the AGA incorporates an Equal-Size Clustering Algorithm (ESCA) based on the K-means clustering method. The ESCA divides the primary task evenly into a series of subtasks, thereby reducing the gene length in the subsequent GA process. The algorithm then employs GA to solve each subtask sequentially. To evaluate the effectiveness of the proposed method, a simulation program was designed to perform path planning for 100 trajectories, and the results were compared with those of State-Of-The-Art (SOTA) methods. The simulation results demonstrate that, although the solutions provided by AGA are suboptimal, it exhibits significant advantages in terms of execution speed and solution stability compared to other algorithms.
