Identification Of Repeats Research Articles

Genome Annotation.

The hallmark of genome sequencing projects is to provide genetic information on a species with functional annotations of genes and proteins. This process heavily relies on genome annotation based on homology detections from previously known genomic data. The rapid advancement of genome sequencing technologies has made genome sequencing affordable and effective in terms of the time frame for the generation of genomic data. Hence, genome sequencing has become a common practice. The annotation and characterization of newly sequenced genomes are crucial factors for the success of any biological experiment based on genomic data. The proteogenomic sector requires annotated genome further characterization of proteomic-based studies, and these are coupled with genomic and RNA-seq data. This chapter describes the genome annotation process from scratch genome sequencing to general genome annotation and specialized genome annotation using BLAST, BLAT2GO (now OMICSBOX), PANNZER, gene ontology (GO), and KEGG. It also covers different processes like repeat identification and masking, gene prediction, genome-wide annotation process, and RNA-seq protocol. It also focuses on genes of interest such as genes associated with BGCs (biosynthetic gene clusters), carbohydrate-active enzymes (CAZymes), serpins (serine protease inhibitors), membrane transporters, and toxins. Manual annotation is also a critical step for at least some groups of genes, which are often critical for the species in consideration. This chapter also briefly describes the phylogenetic and phylogenomic processes required during genome annotation.

Discovery and Analysis of Repeat and Low-Complexity Architectures in Proteins and Their Conserved Evolutionary Relationships Using Self-Homology Dot Plots.

Proteins that contain sequence repetitions and low complexity regions can be analyzed using self-homology dot plot analysis. Dot plots can readily identify protein sequence repeats; the number of repeats and their length and location within the protein sequence are readily identifiable from the dot plots without the need to pre-define any of these attributes, making this method largely model-independent. We discuss the criteria for statistical identification of protein repeats and recommend simple ways of identifying protein repeats. While higher levels of sequence conservation within the repeats do make them easier to formally identify, this method can identify protein repeats with fairly low levels of conservation, as well as notably non-tandem repetitions with sizeable sections of complex, non-repeat sequence separating the individual repeat instances. Furthermore, even simple visual examination of these dot plots can discover conserved patterns within families of closely related proteins, and the level of this conservation can be readily quantified using a Jaccard index. Exhaustive pairwise comparisons can be assembled using hierarchical clustering methods to get a picture of the conserved repeat architectures within families of repeat proteins.

Identification of Cell Wall Binding Domains and Repeats in Streptococcus pneumoniae Phage Endolysins: A Molecular and Diversity Analysis

Streptococcus pneumoniae (pneumococcus) is a multidrug-resistant pathogen associated with pneumonia, otitis media, meningitis and other severe complications that are currently a global threat to human health. The World Health Organization listed Pneumococcus as the fourth of twelve globally prioritized pathogens. Identifying alternatives to antibiotic therapies is urgently needed to combat Pneumococcus. Bacteriophage-derived endolysins can be used as alternative therapeutics due to their bacterial cell wall hydrolyzing capability. In this study, S. pneumoniae phage genomes were screened to create a database of endolysins for molecular modelling and diversity analysis of these lytic proteins. A total of 89 lytic proteins were curated from 81 phage genomes and categorized into eight groups corresponding to their different enzymatically active (EAD) domains and cell wall binding (CBDs) domains. We then constructed three-dimensional structures that provided insights into these endolysins. Group I, II, III, V, and VI endolysins showed conserved catalytic and ion-binding residues similar to existing endolysins available in the Protein Data Bank. While performing structural and sequence analysis with template lysin, an additional cell wall binding repeat was observed in Group II lysin, which was not previously known. Molecular docking performed with choline confirmed the existence of this additional repeat. Group III endolysins showed 99.16% similarity to LysME-EF1, a lysin derived from Enterococcus faecalis. Furthermore, the comparative computational analysis revealed the existence of CBDs in Group III lysin. This study provides the first insight into the molecular and diversity analysis of S. pneumoniae phage endolysins that could be valuable for developing novel lysin-based therapeutics.

The Computational Tools to Identify DNA Repeats and Motifs: A Systematic Review.

DNA repeats and motifs are specific nucleotide patterns/DNA sequences frequently present in the genomes of prokaryotes and eukaryotes. Computational identification of these discrete patterns is of considerable importance since they are associated with gene regulation, genomic instability, and genetic diversity and result in a variety of diseases/disorders. In this article, the myriad of computational tools/algorithms and databases (~200 distinct resources) implicated in the detection of DNA repeats and motifs have been enlisted. This article will not only provide guidance to the users regarding the accuracy, reliability, and popularity (reflected by the citation index) of currently available tools but also enable them to select the best tool(s) to carry out a desired task. The structured literature review, with its dependable and reproducible research process, allowed us to acquire 200 peer-reviewed publications from indexing databases, such as Scopus, ScienceDirect, Web of Science (WoS), PubMed, and EMBASE, by utilizing PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) regulations. Numerous keyword combinations regarding DNA repeats and motifs were used to create the query syntax. Initially, 3,233 research publications were retrieved, and 200 of them that satisfied the eligibility criteria for the detection and identification of DNA repeats and motifs by computational tools were chosen. A total of 200 research publications were recovered, of which 99 dealt with repeat prediction tools, 12 with repetitive sequence databases, 19 with specialized regulatory element databases, and 69 with motif prediction tools. This article lists numerous databases and computational tools/algorithms (~ 200 different resources) that are involved in the identification of DNA repeats and motifs. It will help users choose the appropriate tool(s) for carrying out a particular task in addition to offering guidance on the reliability, dependability, and popularity (as indicated by the citation index) of currently available tools.

Making wrong site surgery a "never event" in spinal deformity surgery by use of a "landmark vertebra" to eliminate variability in identifying a target vertebral level.

Despite the introduction of "standardized counting" methods, errors in counting spinal levels and subsequent wrong-level surgery (WLS)remain critically important patient safety concerns. Previous work by our group has documented inconsistency in the identification of T12 despite the use of these systems including the Spinal Deformity Study Group (SDSG)conventions. To assist with consistent and repeatable identification of proposed preoperative surgical levels, the current study investigates a new strategy: utilization of a "landmark vertebra". It was hypothesized that individuals using a "landmark vertebra" strategy will achieve high concordance with target level identification between distinct time points as compared to conventional methods defining T12. Survey participants analyzed 99 pre-op radiographs, identifying and naming a "landmark vertebra" with concise descriptions like "last bilaterally ribbed vertebra." They then noted the proposed lowest instrumented vertebra's (LIV) distance relative to landmark (i.e., one below landmark). After a waiting period, participants used their written descriptions of the landmark and distance to LIV to reidentify these vertebrae. Cohen's Kappa (k) was used to measure intra-rater agreeability. The landmark strategy was compared to our previous work evaluating consistency in defining T12 based on the SDSG system. All raters showed perfect to near-perfect agreement when re-identifying the landmark and target vertebrae (k = 0.819-1.00; Table1A). Raters at all training levels had higher agreeability in naming the landmark vertebra and target when compared to raters at similar training levels defining T12 (k = 0.34-0.91; Table1B). This high agreement across training demonstrates the strategy's versatility and generalizability. Utilization of a landmark strategy proved to be highly effective in reducing intra-rater variability, with perfect to near-perfect agreement among all raters and consistently higher agreeability when compared to defining T12. Level II-prospective survey.

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging. In this study, we present the DRAGEN KIV-2 CN caller, which utilizes short reads. Data across 166 WGS show that the caller has high accuracy, compared to optical mapping and can further phase approximately 50% of the samples. We compared KIV-2 CN numbers to 24 previously postulated KIV-2 relevant SNVs, revealing that many are ineffective predictors of KIV-2 copy number. Population studies, including USA-based cohorts, showed distinct KIV-2 CN, distributions for European-, African-, and Hispanic-American populations and further underscored the limitations of SNV predictors. We demonstrate that the CN estimates correlate significantly with the available Lp(a) protein levels and that phasing is highly important.

Identification of Mirror Repeats in Viral Genomes Using FPCB Analysis

The majority of living domains consist of DNA as genetic material with the minor exception of viruses. The uniquenature of every species determines by its unique pattern of genome or gene products. The genomic features become an evidentexample of evolutionary study also. Different types of repeat patterns are observed in genomes of living domains including humanbeings whose two third portion of the genome is repetitive. Among the varied type of repeat sequences Mirror Repeats (MR) playcrucial roles at the genetic level in every species. The major focus of our research is on identification & to check the distributionof mirror repeats in some selected infectious viruses of three different domains (Animal, Plant & Human). For this, we employeda bioinformatics-based approach refer as FASTA PARALLEL COMPLEMENT BLAST (FPCB) to identify unique mirror repeat (MR)sequences. The identified repeats vary in their length as well as found to be distributed throughout the selected viral genomes.The maximum no of MR were reported in the case of Dengue virus (229) & minimum is in the case of TMV (97). In the remainingselected viruses - HCV, HPV, HTLV-1, PVY, Rabies virus 178, 156, 175, 203 & 204 MR sequences were reported. These sequencescan be utilized in many ways like in molecular diagnosis, drug delivery target as well as evolutionary study, etc. The present researchalso helps in the development of novel tools of bioinformatics to study mirror repeats and their functional perspective in thecontext of their occurrence in all domains.

A Systematic Study on Mirror Repeats in CTLA4 and KCNJ11 Genes of Diabetes

All cellular functions are controlled by the regulatory material which is constituted majorly by variety type of repeat elements. Among that types a unique pattern of bases form a Mirror repeat (MR) which thought to plays variety of roles at the genomic level that include regulation of gene expression, genomic integrity, triplex structure formation etc. The present research focused on identification of Mirror repeats in different genes types involved in both diabetes types. Two different genes CTLA4 (T1D) & KCNJ11 (T2D) were targeted to identify these sequence type. A manual method refers as FPCB is utilized to extract out MR sequences. The targeted gene sequences were divided into short regions so that it can be handled out easily while bioinformatics based analysis. Among the both types it was reported that both genes have different pattern of distribution of MR sequences. CTLA4 have 346 MR sequences in total in which MR235 have highest length of 50bps. In case of KCNJ11 a total no of 235 MR sequences were reported in which MR105 having highest length of 58bps. The present study will be helpful to elucidate the roles of MR sequences in diseases development & progression. It will be helpful for sequence based protein finding studies using bioinformatics tools as well as wet lab experiments.

In silico Approach for the Identification of Mirror Repeats within ced-3 Gene of Caenorhabditis elegans

Objectives: The repetitive elements within the genome of eukaryotes form a significant portion and are associated with various molecular functions within a cell. The goal of our study is to determine a special type of repeat i.e., mirror repeat within complete ced-3 apoptotic gene and its exons. Methods: A simple computational approach was used to search mirror repeats within the eight exons and complete ced-3 gene of Caenorhabditis elegans (C. elegans). C. elegans is a model organism widely used to study genetics, and developmental biology and ced-3 is the main apoptotic gene responsible for cell death. Findings: We identified 140 mirror repeats within the different regions of the ced-3 gene of C. elegans. These identified mirror repeats are not restricted to the genome of C. elegans but are scattered among the genome of C. vulgaris, Xenopus tropicalis and Drosophila melanogaster. Novelty: This research work is the very first endeavor to characterize mirror repeats within the complete ced-3 gene and its exons. Nobody has been studied mirror repeats within ced-3 apoptotic gene of C. elegans. Mirror repeat has the potential to form triplex DNA and is also associated with several neurological disorders. Forthcoming studies will help us to explore the functions and nature of these identified mirror repeats. Keywords: Repetitive elements, mirror repeats, Caenorhabditis elegans and ced-3 gene

Precise identification of cascading alpha satellite higher order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3

Precise identification of cascading alpha satellite higher order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3

Study of Dispersed Repeats in the Cyanidioschyzon merolae Genome.

In this study, we applied the iterative procedure (IP) method to search for families of highly diverged dispersed repeats in the genome of Cyanidioschyzon merolae, which contains over 16 million bases. The algorithm included the construction of position weight matrices (PWMs) for repeat families and the identification of more dispersed repeats based on the PWMs using dynamic programming. The results showed that the C. merolae genome contained 20 repeat families comprising a total of 33,938 dispersed repeats, which is significantly more than has been previously found using other methods. The repeats varied in length from 108 to 600 bp (522.54 bp in average) and occupied more than 72% of the C. merolae genome, whereas previously identified repeats, including tandem repeats, have been shown to constitute only about 28%. The high genomic content of dispersed repeats and their location in the coding regions suggest a significant role in the regulation of the functional activity of the genome.

Comparative Analyses of Complete Chloroplast Genomes of Microula sikkimensis and Related Species of Boraginaceae.

The present study provides a detailed analysis of the chloroplast genome of Microula sikkimensis. The genome consisted of a total of 149,428 bp and four distinct regions, including a large single-copy region (81,329 bp), a small single-copy region (17,261 bp), and an inverted repeat region (25,419 bp). The genome contained 112 genes, including 78 protein-coding genes, 30 tRNA genes, and 4 rRNA genes, and some exhibited duplication in the inverted repeat region. The chloroplast genome displayed different GC content across regions, with the inverted repeat region exhibiting the highest. Codon usage analysis and the identification of simple sequence repeats (SSRs) offer valuable genetic markers. Comparative analysis with other Boraginaceae species highlighted conservation and diversity in coding and noncoding regions. Phylogenetic analysis placed M. sikkimensis within the Boraginaceae family, revealing its distinct relationship with specific species.

Species identification through deep learning and geometrical morphology in oaks (Quercus spp.): Pros and cons.

Plant phenotypic characteristics, especially leaf morphology of leaves, are an important indicator for species identification. However, leaf shape can be extraordinarily complex in some species, such as oaks. The great variation in leaf morphology and difficulty of species identification in oaks have attracted the attention of scientists since Charles Darwin. Recent advances in discrimination technology have provided opportunities to understand leaf morphology variation in oaks. Here, we aimed to compare the accuracy and efficiency of species identification in two closely related deciduous oaks by geometric morphometric method (GMM) and deep learning using preliminary identification of simple sequence repeats (nSSRs) as a prior. A total of 538 Asian deciduous oak trees, 16 Q. aliena and 23 Q. dentata populations, were firstly assigned by nSSRs Bayesian clustering analysis to one of the two species or admixture and this grouping served as a priori identification of these trees. Then we analyzed the shapes of 2328 leaves from the 538 trees in terms of 13 characters (landmarks) by GMM. Finally, we trained and classified 2221 leaf-scanned images with Xception architecture using deep learning. The two species can be identified by GMM and deep learning using genetic analysis as a priori. Deep learning is the most cost-efficient method in terms of time-consuming, while GMM can confirm the admixture individuals' leaf shape. These various methods provide high classification accuracy, highlight the application in plant classification research, and are ready to be applied to other morphology analysis.

High-fidelity (repeat) consensus sequences from short reads using combined read clustering and assembly

BackgroundDespite the many cheap and fast ways to generate genomic data, good and exact genome assembly is still a problem, with especially the repeats being vastly underrepresented and often misassembled. As short reads in low coverage are already sufficient to represent the repeat landscape of any given genome, many read cluster algorithms were brought forward that provide repeat identification and classification. But how can trustworthy, reliable and representative repeat consensuses be derived from unassembled genomes?ResultsHere, we combine methods from repeat identification and genome assembly to derive these robust consensuses. We test several use cases, such as (1) consensus building from clustered short reads of non-model genomes, (2) from genome-wide amplification setups, and (3) specific repeat-centred questions, such as the linked vs. unlinked arrangement of ribosomal genes. In all our use cases, the derived consensuses are robust and representative. To evaluate overall performance, we compare our high-fidelity repeat consensuses to RepeatExplorer2-derived contigs and check, if they represent real transposable elements as found in long reads. Our results demonstrate that it is possible to generate useful, reliable and trustworthy consensuses from short reads by a combination from read cluster and genome assembly methods in an automatable way.ConclusionWe anticipate that our workflow opens the way towards more efficient and less manual repeat characterization and annotation, benefitting all genome studies, but especially those of non-model organisms.

Analisis Minat Masyarakat dan Pendapatan Masyarakat terhadap Pegadaian Syariah

People with low incomes may see sharia pawnshops as a way to obtain additional funds by using their assets as collateral. In this case, their interest in using sharia pawnshops is related to increasing their income. Considering the importance of understanding people's interest and income towards sharia pawnshops, a comprehensive and in-depth analysis is needed. This research aims to analyze what factors influence people's interest in sharia pawnshops, as well as the relationship between people's income and interest in sharia pawnshops. The method used in this research is a literature review, namely a systematic, clear and repeatable identification method. The data source for this research uses secondary data in the form of literature studies by analyzing various reading materials related to people's income, people's interests, and sharia pawnshops.

Identification of Gene Responsible for Conferring Resistance against Race KN2 of Podosphaera xanthii in Melon.

Powdery mildew caused by Podosphaera xanthii is a serious fungal disease which causes severe damage to melon production. Unlike with chemical fungicides, managing this disease with resistance varieties is cost effective and ecofriendly. But, the occurrence of new races and a breakdown of the existing resistance genes poses a great threat. Therefore, this study aimed to identify the resistance locus responsible for conferring resistance against P. xanthii race KN2 in melon line IML107. A bi-parental F2 population was used in this study to uncover the resistance against race KN2. Genetic analysis revealed the resistance to be monogenic and controlled by a single dominant gene in IML107. Initial marker analysis revealed the position of the gene to be located on chromosome 2 where many of the resistance gene against P. xanthii have been previously reported. Availability of the whole genome of melon and its R gene analysis facilitated the identification of a F-box type Leucine Rich Repeats (LRR) to be accountable for the resistance against race KN2 in IML107. The molecular marker developed in this study can be used for marker assisted breeding programs.

RFGR: Repeat Finder for Complete and Assembled Whole Genomes and NGS Reads.

Repetitive DNA sequences cause genomic instability and are important genetic markers. Identification of repeats is a critical step in genome annotation and analysis. On the other hand, repeats also pose a technical challenge for genome assembly and alignment programs using NGS data. RFGR is a comprehensive tool that can find exact repetitive sequences in complete genomes and assembled genomes, as well as NGS reads of prokaryotes. For complete genomes, RFGR uses a suffix trees to find seed repeats of repetitive sequences of fixed length with indels. For assembled genomes, RFGR uses a modified Bowtie aligner to find seed repeats of exact repetitive sequences in the contigs/ scaffolds, which are then extended to maximal repeats. The repeats are classified and for repeats near a gene, RFGR reports the gene as well. For the control dataset of E. coli UTI89 and E. coli K12, RFGR reports 35,141 and 49,352 repeats, respectively. For NGS reads, RFGR uses the frequency of the repetitive k-mers to determine FASTQ reads containing repetitive sequences and removes them from the dataset. An E. coli K12 NGS dataset pre-processed using RFGR, on comparison with the original dataset, gives an improved assembly. The N50 value improves by 22.86% with a decrease in size of the assembly graph by nearly 50%. Thus, with RFGR, we achieve a better assembly with reduced computation. RFGR can be improved in terms of the length of the minimum repeat found, extending to find approximate repeats and to be applicable to Eukaryotes as well.

Genome-wide identification of simple sequence repeats and development of polymorphic SSR markers in brown trout (Salmo trutta)

Genome-wide identification of simple sequence repeats and development of polymorphic SSR markers in brown trout (Salmo trutta)

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.

The ClC-K channels CLCNKA and CLCNKB are crucial for the transepithelial transport processes required for sufficient urinary concentrations and sensory mechanoelectrical transduction in the cochlea. Loss-of-function alleles in these channels are associated with various clinical phenotypes, ranging from hypokalemic alkalosis to sensorineural hearing loss (SNHL) accompanied by severe renal conditions, i.e., Bartter's syndrome. Using a stepwise genetic approach encompassing whole-genome sequencing (WGS), we identified one family with compound heterozygous variants in the ClC-K channels, specifically a truncating variant in CLCNKA in trans with a contiguous deletion of CLCNKA and CLCNKB. Breakpoint PCR and Sanger sequencing elucidated the breakpoint junctions derived from WGS, and allele-specific droplet digital PCR confirmed one copy loss of the CLCNKA_CLCNKB contiguous deletion. The proband that harbors the CLCNKA_CLCNKB variants is characterized by SNHL without hypokalemic alkalosis and renal anomalies, suggesting a distinct phenotype in the ClC-K channels in whom SNHL predominantly occurs. These results expanded genotypes and phenotypes associated with ClC-K channels, including the disease entities associated with non-syndromic hearing loss. Repeated identification of deletions across various extents of CLCNKA_CLCNKB suggests a mutational hotspot allele, highlighting the need for an in-depth analysis of the CLCNKA_CLCNKB intergenic region, especially in undiagnosed SNHL patients with a single hit in CLCNKA.

Daisy: An integrated repeat protein curation service

Tandem repeats in proteins identification, classification and curation is a complex process that requires manual processing from experts, processing power and time. There are recent and relevant advances applying machine learning for protein structure prediction and repeat classification that are useful for this process. However, no service contemplates required databases and software to supplement researching on repeat proteins. In this publication we present Daisy, an integrated repeat protein curation web service. This service can process Protein Data Bank (PDB) and the AlphaFold Database entries for tandem repeats identification. In addition, it uses an algorithm to search a sequence against a library of Pfam hidden Markov model (HMM). Repeat classifications are associated with the identified families through RepeatsDB. This prediction is considered for enhancing the ReUPred algorithm execution and hastening the repeat units identification process. The service can also operate every associated PDB and AlphaFold structure with a UniProt proteome registry.Availability: The Daisy web service is freely accessible at daisy.bioinformatica.org.