There is increasing evidence that many molecular processes exhibit differences with age 1 and sex. Such differences produces also differences in the insurgence and progression of many 2 complex diseases. For instances, demographic data on insurgence of comorbidities of mellitus 3 diabetes, on lethality of COVID-19, and on some cancers, shows differences between sex and age 4 groups. Therefore, the growing interest on such area requires the management of related data as 5 well as the development of algorithms and tool for the analysis. The availability of omics data 6 annotated with metadata related to age and sex is mandatory for building pipeline of the analysis. 7 The number of databases containing data related to age and sex is hencefort growing. We here show 8 some databases and tools storing such data. Finally, future research direction are highlighte

With nearly 1,700 species, Microsporidia represent a group of obligate intracellular eukaryotes with veterinary, economic and medical impacts. To help in understanding the biological functions of these microorganisms, complete genome sequencing is used routinely. Nevertheless, the proper prediction of their gene catalogue is challenging due to taxon-specific evolutionary features. As innovative genome annotation strategies are needed to obtain a representative snapshot of the overall lifestyle of these parasites, the MicroAnnot tool, a dedicated workflow for microsporidian sequence annotation using data from curated databases of accurately annotated microsporidian genes, has been developed. Furthermore, specific modules have been implemented to perform small genes (< 300bp) and transposable element identification. Finally, functional annotation was performed using the signature-based InterProScan software. MicroAnnot’s accuracy has been verified by the re-annotation of four microsporidian genomes for which structural annotation had previously been validated. With its comparative approach and transcriptional signal identification method, MicroAnnot provides accurate prediction of translation initiation sites, efficient identification of transposable elements, as well as high specificity and sensitivity for microsporidian genes including those under 300 bp. Thanks to its web interface (https://microannot.org), MicroAnnot is available to the community to ensure high quality annotation of microsporidian genomes.

Episcopic imaging using techniques such as High Resolution Episcopic Microscopy (HREM) and its variants, allows biological samples to be visualized in three dimensions over a large field of view. Quantitative analysis of episcopic image data is undertaken using a range of methods. In this systematic review, we look at trends in quantitative analysis of episcopic images and discuss avenues for further research. Papers published between 2011 and 2022 were analyzed for details about quantitative analysis approaches, methods of image annotation and choice of image processing software. It is shown that quantitative processing is becoming more common in episcopic microscopy and that manual annotation is the predominant method of image analysis. Our meta-analysis highlights where tools and methods require further development in this field, and we discuss what this means for the future of quantitative episcopic imaging, as well as how annotation and quantification may be automated and standardized across the field.

When analyzing user geospatial information through deep learning methods, it is typically necessary to annotate existing geospatial data. Currently, manual annotation methods are commonly employed, suffering from issues related to low efficiency and accuracy. This design is based on the TensorFlow deep learning framework and first realizes the BiLSTM+CRF+AGG deep learning model. Among the models, AGG is the aggregation layer, which is introduced to solve the problem of solid particle size equilibrium. Secondly, based on the characteristics of original data and professional data, an automatic labeling algorithm is proposed. The algorithm first preprocesses the acquired original data set and professional data set, The most valuable unlabeled data set which can make the training model converge quickly is selected from the original data set as the target data set. Sort the target data set based on preset rules and set annotation parameters for the sorted target data set. Based on the set annotation parameters, the corpus is synthesized and used as the annotation result. Thirdly, based on the active learning strategy, a manual annotation auxiliary scheme is proposed, and an Excel generation module that is convenient for manual annotation correction is designed and developed to further improve the efficiency and quality of annotation through iterative processing. The combination of the BiLSTM+CRF+AGG deep learning model and high-quality annotation can accurately identify non-standard, incomplete, or even incorrect geographical information entities. This annotation method has found successful practical application within the context of the research project and has been granted an invention patent.

Cross-institutional secondary use of medical data benefits from structured semantic annotation, which, ideally, enables matching and merging semantically related data items from different sources and sites. While numerous medical terminologies and ontologies, as well as some tooling, exist to support such annotation, cross-institutional data usage based on independently annotated datasets is challenging for multiple reasons: the annotation process is resource intensive and requires a combination of medical and technical expertise since it often requires judgment calls to resolve ambiguities resulting from non-uniqueness of potential mappings to various levels of ontological hierarchies and relational and representational systems. Divergent resolution of such ambiguities can inhibit joint cross-institutional data usage based on semantic annotation since data items with related content from different sites will not be identifiable based on their respective annotations if different choices were made without further steps such as ontological inference, which is still an active area of research. We hypothesize that a collaborative approach to semantic annotation of medical data can contribute to more resource efficient and high-quality annotation by utilizing prior annotational choices of others to inform the annotation process, thus both speeding up the annotation itself and fostering a consensus approach to resolving annotational ambiguities by enabling annotators to discover and follow pre-existing annotational choices. Therefore, we have implemented a prototypical Collaborative Annotation Tool (CoAT), evaluated its usability, and present first inter-institutional experiences with this novel approach to promoting practically relevant interoperability driven by use of standardized ontologies.

In recent years, ontology plays an important role in facilitating the semantic description of images which consists of describing the image by a set of words to describe the scene which signifies the belonging of the image. This description specified in several archaeological fields such as cultural, religious objects and heritage objects of France. However, the description of archaeological images is not yet exploited because this field is very diverse. In this article, we present a panel of ontology construction methods as well as archaeological ontologies. Also, we show our own OntunAr ontology to describe Tunisian archaeological images. In addition, we integrate OnTunAr into the automatic annotation of Tunisian archaeological images.

Shea tree (Vitellaria paradoxa) is an important fruit tree crop because of its oil used for cooking and industrial manufacture of cosmetics. Despite its many benefits, quantitative trait loci linked to the economic traits have not yet been studied. In this study, we performed association mapping on a panel of 374 shea tree accessions using 7,530 single-nucleotide polymorphisms (SNPs) markers for oil yield and seed related traits. Twenty three markers that were significantly (–log10 (p) = 4.87) associated to kernel oil content, kernel length; width and weight were identified. The kernel dry matter oil content and kernel width had the most significant Marker Trait Association (MTA) on chromosomes 1 and 8 respectively. Sixteen candidate genes that condition early induction of flower buds and somatic embryos, seed growth and development, substrate binding, transport, lipid biosynthesis, metabolic processes during seed germination and disease resistance and abiotic stress adaptation were identified. The presence of these genes suggest their role in promoting shea bioactive functions that condition high oil synthesis. This study provides insights into the important marker-linked seed traits with genes controlling them, useful for molecular breeding for improving oil yield in the species.

Background: Transposable elements (TEs) constitute the vast majority of all eukaryotic DNA, and display extreme diversity, with thousands of families. Given their abundance and diversity, TEs discovery and annotation becomes challengeable. At present, tools and databases have built libraries to mask TEs in genomes based on de novo- and homology-based identification strategies, but no consensus criteria about which tools should be used have been proposed. Results: In the de novo-based strategy, we compared performances of TE libraries developed by four commonly used tools, including RepeatModeler, LTR_FINDER, LTRharvest, and MITE_Hunter, by using a simulated genome as a standard control. The results showed that the performance of RepeatModeler decreased as it was combined with either LTR_FINDER or LTRharvest. Combination of RepeatModeler and MITE_Hunter showed better performance than RepeatModeler and MITE_Hunter alone. In the homology-based strategy, we evaluated different sources from a taxonomic point of view to build an accurate TE library. When we selected a library from databases to identify TEs for Arabidopsis thaliana genome, the library from a genus genetically closer to Arabidopsis achieved better performance than other genera with further genetic distance. Without the Arabidopsis, combination of top three genera closer to Arabidopsis showed better performance than combination of all genera. Conclusion: This study proposes a series of recommendations to perform an accurate TE annotation: 1) For de novo-based strategy, RepeatModeler and MITE_Hunter are suggested to build a TE library; 2) For homology-based strategy, it is recommended to use library of genus genetically close to the species rather than use combined library from all genera.

Closely related to the model plant Arabidopsis thaliana, the genus Boechera is known to contain both sexual and apomictic species or accessions. Boechera retrofracta is a diploid sexually reproducing species and is thought to be an ancestral parent species of the apomictic species Boechera divaricarpa. Here we report the de novo assembly of the B. retrofracta genome using short Illumina and Roche reads from 1 paired-end and 3 mate pair libraries. The distribution of 23-mers from the paired end library has indicated a low level of heterozygosity and the presence of detectable duplications and triplications. The genome size was estimated to be equal 227 Mb. N50 of the assembled scaffolds was 2.3 Mb. 27048 protein-coding genes were predicted using a hybrid approach that combines homology-based and de novo methods. Also repeats, tRNA and rRNA genes were annotated. Finally, genes of B. retrofracta and 6 other Brassicaceae species were used for phylogenetic tree reconstruction. Also, a detailed analysis of evolution of the APOLLO apomixis-associated locus was performed. An assembled genome of B. retrofracta will help in the challenging assembly of the highly heterozygous genomes of hybrid apomictic species such as B. divaricarpa.

Transposons are mobile DNA sequences that contribute large fractions of many plant genomes. They provide exclusive resources for tracking gene and genome evolution and for developing molecular tools for basic and applied research. Despite extensive efforts, it is still challenging to accurately annotate transposons, especially for the beginners as transposon prediction requires necessary expertise in both transposon biology and bioinformatics. Moreover, the complexity of plant genomes and the dynamic evolution of transposons also bring difficulties for genome-wide transposon discovery. This review summarizes the three major strategies for transposon detections including repeat-based, structure-based, and homology-based annotation, and introduces the transposon superfamilies identified in plants thus far, and some related bioinformatics resources for detecting plant transposons. Furthermore, it describes the transposon classification and explains why the terms of ‘autonomous’ and ‘non-autonomous’ cannot be used to classify the superfamilies of transposons. Last, this review also discusses how to identify misannotated transposons and improve the quality of transposon database. This review provides helpful information about plant transposons and a beginner’s guide on annotating these repetitive sequences.

Understanding the function of a locus is a challenge in molecular biology. Although numerous molecular data have been generated in the last decades, it remains difficult to grasp, how these data are related at a locus? In this study, we describe an analytical workflow that can solve this problem using the knowledge available at single-nucleotide polymorphisms (SNPs) level. The underlying algorithm uses SNPs as connectors to link omics data and identify correlation between them through a joint bioinformatical/statistical approach. We describe its application in finding the mechanism whereby a mutation causes a phenotype and in revealing the path whereby a gene is being regulated and impacts the phenotypes. We translated our workflow into freely available shell scripts that carry out the analyses. Our approach provides a basic framework to solve the information overload problem in biology.

Citizen Science has come up to perform analytics over the SARS-CoV-2 genome. Public GALAXY servers provide an automated platform for genomics analysis. Study includes design of GALAXY workflows for RNASEQ assembly and annotation as well as genomic variant discovery and perform analysis across four samples of SARS-CoV-2 infected humans obtained from the local population of Wuhan, China. It provides information about transcriptomics and genomic variants across the SARS-CoV-2 genome. Study can be extended to perform evolutionary and comparative study across each species of coronaviruses. Augmented and integrated study with cheminformatics and immunoinformatics will be a way forward for drug discovery and vaccine development.

Background: Eukaryotes whole-genome sequencing is crucial for species identification, gene detection and protein-annotation. Oxford Nanopore sequencing serves as an affordable and rapid platform for sequencing eukaryotes, however the relatively higher error rates require computational and bioinformatic efforts to produce more accurate genome assemblies. Here, we evaluated the effect of read correction tools on eukaryotes genome completeness, gene detection and protein-annotation. Methods: Reads generated by ONT of four eukaryotes, C. albicans, C. gattii, S. cerevisiae, and P. falciparum, were assembled using minimap2 and underwent three rounds of read correction using flye, medaka and racon. The generates consensus FASTA files were compared for total length (bp), genome completeness, gene detection, and protein-annotation by QUAST, BUSCO, BRAKER1 and InterProScan, respectively. Results: genome completeness was dependent on assembly method rather than read correction tool, however, medaka performed better than flye and racon. Racon significantly performed better than flye and medaka in gene detection, while both racon and medaka significantly performed better than flye in protein-annotation. Conclusion: We show that three rounds of read correction significantly affects gene detection and protein-annotation which are dependent on assembly quality in preference to assembly completeness.

Recent advancements in neural machine translation (NMT) offer promising potential for generating cross-language clinical natural language processing (NLP) resources. There is a pressing need to be able to foster the development of clinical NLP tools that extract key clinical entities in a comparable way for a multitude of medical application scenarios, hindered by lack of multilingual annotated data. This study explores the efficacy of using NMT and annotation projection techniques with expert in the loop validation to develop named entity recognition (NER) systems for an under resourced target language (Catalan) by leveraging Spanish clinical corpora annotated by domain experts. We employed a state-of-the-art NMT system to translate three clinical case corpora. The translated annotations were then projected onto the target language texts and subsequently validated and corrected by clinical domain experts. The efficacy of the resulting NER systems was evaluated against manually annotated test sets in the target language. Our findings indicate that this approach not only facilitates the generation of high-quality training data for the target language (Catalan) but also demonstrates the potential to extend this methodology to other languages, thereby enhancing multilingual clinical NLP resource development. The generated corpora and components are publicly accessible, providing potentially a valuable resource for further research and application in multilingual clinical settings: https://zenodo.org/doi/10.5281/zenodo.13133124.

Plant-derived diterpene synthases (PdiTPSs) play a critical role in the formation of structurally and functionally diverse diterpenoids. However, the specificity or promiscuity of PdiTPSs remains unclear. In order to gain more understanding of this, the sequences of 199 functionally characterized PdiTPSs and their corresponding 3D structures were collected and manually corrected. Then, the correlations among sequences, domains, structures and their corresponding products were comprehensively analyzed. However, those features alone was insufficient for ef-fective product-specific classification of PdiTPSs as these methods could not establish a clear mapping between the enzymes and products. Nevertheless, local structural analysis can identify residues that have been experimentally proven to influence product outcomes through mutagenesis, and these residues exhibit conservation in spatial positioning and physicochemical properties. And aromatic residues surrounding the substrate exhibited selectivity towards its chemical structure. Specifically, tryptophan (W) was preferentially located around the linear substrate geranylgeranyl pyrophosphate (GGPP), while phenylalanine (F) and tyrosine (Y) were preferentially located around the initial cyclized diterpene intermediate. This analysis revealed the functional space of residues surrounding the substrate of PdiTPSs, most of which have not been experimentally explored. These findings provide guidance for screening specific residues for mutation studies to change the catalytic products of PdiTPSs.

Diatom identification and counting by light microscopy is a fundamental method in ecological and water quality investigations. Here we present a new variant of this method based on “digital virtual slides”, and compare it to the traditional, non-digitized light microscopy workflow. We analysed three replicates of six samples using two methods: 1) working directly on a light microscope (the “traditional” counting method), and 2) preparing “virtual digital slides” by high-resolution slide scanning and subsequently identifying and labelling individual valves or frustules using a web browser-based image annotation platform (the digital method). Both methods led to comparable results in terms of species richness, diatom indices and diatom community composition. Although counting by digital microscopy was slightly more time consuming, our experience points out that the digital workflow can not only improve the transparency and reusability of diatom counts but it can also increase taxonomic precision. The introduced digital workflow can also be applied for taxonomic inter-expert calibration through the web, and for producing training image sets for deep-learning-based diatom identification, making it a promising and versatile alternative or extension to traditional light microscopic diatom analyses in the future.

The humpback puffer, Tetraodon palembangensis, also known as Pao palembangensis, is a species of poisonous freshwater pufferfish mainly distributed in Southeast Asia (Thailand, Laos, Malaysia and Indonesia). Despite interesting biological features, such as its very inactive nature, tetrodotoxin production and body expansion mechanisms, molecular research on the humpback puffer is still rare because of the lack of a high-quality reference genome. Here, we reported a first chromosome-level genome assembly of an adult humpback puffer, of which the genome size is 362 Mb with ~1.78 Mb contig N50 and ~15.8 Mb scaffold N50s. Based on the genome, ~61.5Mb (18.11%) repeat sequences were also identified, and totally 19,925 genes were annotated, 99.20% of which could be predicted with function using protein-coding function databases. Finally, a phylogenetic tree was constructed with single-copy gene families from ten teleost fishes. The humpback puffer genome will be a valuable genomic resource to illustrate possible mechanisms of tetrodotoxin synthesis and tolerance, providing clues for future detailed studies of biological toxins.

To explore the expression characteristics and biological functions of related genes of medicago terrestris under long day conditions, and to lay a foundation for revealing the molecular mechanism of medicago terrestris under long day conditions. The leaves of 'R108' tribulus Medicago sativa at branch stage (A), bud stage (B), initial flowering stage (C) and full flowering stage (D) were sequenced by RNA-Seq technology. The genome of Medicago sativa, a related species of Tribulus tribulus, was used as a reference genome for sequence comparison. The transcriptomes of three adjacent periods (A vs B, B vs C, C vs D) were analyzed for differentially expressed genes and photoperiod related differentially expressed genes were screened. A total of 6875 differentially expressed genes were detected. GO functional analysis showed that differentially expressed genes were mainly involved in biological processes, cell components and molecular functions, among which the most differentially expressed genes were involved in cell components. KEGG enrichment analysis showed that differentially expressed genes were mainly involved in circadian rhythm, photosynthesis - antenna protein, ribosome metabolism and other pathways. The number of single nucleotide variants detected by cSNP analysis was 312875, and the frequency of A/G and C/T were the highest. The function of eggNOG was divided into 23 categories, with a total of 26745 genes having similarities, 9008 genes were classified as function unknown, 2669 genes were classified as signal transduction mechanism, 2194 genes were classified as transcription, etc. In different developmental stages (A vs B, B vs C, C vs D), 3463 up-regulated and 3412 down-regulated differentially expressed genes were found. The difference between up-regulated and down-regulated genes was the most obvious between bud stage and initial flowering stage. In addition, a total of 79 flowering genes were found, of which 51 differential genes were screened out to participate in photoperiodic regulation pathway, 23 differential genes were up-regulated, and 28 differential genes were down-regulated. The ratio of gene-LOC11410562(GI), gene-LOC11435974(CO), gene-LOC11422615(TOC1) and gene-LOC11432385(LHY) was higher than that of gene-LOC25500742(PHYA) and gene-LOC11 431402(ELF3), gene-LOC11434778(Col13), gene-LOC25498015(Col6), and gene-LOC11415514(Col9) were preexpressed. The above differentially expressed genes were significantly expressed in different development stages of Terrestris alfalfa, which laid a foundation for further study of the molecular mechanism of Terrestris alfalfa.

Repetitive elements are a major component of DNA sequences due to their ability to propagate through the genome. Characterization of Metazoan repetitive profiles is picking up, however, current pipelines are failing to identify a significant proportion of divergent repeats in non-model organisms. The order Decapoda, for which repeat content analyses are largely lacking, is characterized by extremely variable genome sizes that suggest an important presence of repetitive elements. Here we developed a new standardized pipeline to annotate repetitive elements in non-model organisms, which we applied on 20 Decapoda and 6 other crustacean genomes. With our new tool we identify 10% more repetitive elements than standard pipelines. Repetitive elements were more abundant in Decapoda species than in other crustaceans, with an incredibly large number of highly repeated satDNA families. Moreover, we demonstrated a high correlation between assembly size and transposable elements and a different repeat dynamics between Dendrobranchiata and Reptantia. The patterns of repetitive elements largely reflect the phylogenetic relationships of Decapoda and the distinct evolutionary trajectories within Crustacea. In summary, our results highlight the impact of repetitive elements on genome evolution in Decapoda and the value of our novel annotation pipeline, which will provide a baseline for future comparative analyses.

The digital format opens up new possibilities for interaction with monographic publications. In particular, annotation tools make it possible to broaden the discussion on the content of a book, to suggest new ideas, to report errors or inaccuracies, and to conduct open peer reviews. However, this requires the support of the users who might not yet be familiar with the annotation of digital documents. This paper will give concrete examples and recommendations for exploiting the potential of annotation in academic research and teaching. After presenting the annotation tool of Hypothesis, the article focuses on its use in the context of HIRMEOS (High Integration of Research Monographs in the European Open Science Infrastructure), a project aimed to improve the Open Access digital monograph. The general line and the aims of a post-peer review experiment with the annotation tool, as well as its usage in didactic activities concerning monographic publications are presented and proposed as potential best practices for similar annotation activities.

Growth monitoring of crops is a crucial aspect of precision agriculture, essential for optimal yield prediction and resource allocation. Traditional crop growth monitoring methods are labor-intensive and prone to errors. This study introduces an automated segmentation pipeline utilizing multi-date aerial images and ortho-mosaics to monitor the growth of cauliflower crops (Brassica Oleracea var. Botrytis) using an object-based image analysis approach. The methodology employs YOLOv8, Grounding Detection Transformer with Improved Denoising Anchor Boxes (DINO), and the Segment Anything Model (SAM) for automatic annotation and segmentation. The YOLOv8 model was trained using aerial image datasets, which then facilitated the training of the Grounded Segment Anything Model framework. This approach generated automatic annotations and segmentation masks, classifying crop rows for temporal monitoring and growth estimation. The study’s findings utilized a multi-modal monitoring approach to highlight the efficiency of this automated system in providing accurate crop growth analysis, promoting informed decision-making in crop management and sustainable agricultural practices. Results indicate consistent and comparable growth patterns between aerial images and ortho-mosaics, with significant periods of rapid expansion and minor fluctuations over time. The results also indicated a correlation between the both the time and method of observation which paves a future possibility of integration of such techniques aimed at increasing the accuracy in crop growth monitoring based on automatically derived temporal crop row segmentation masks.

Lactobacillus plantarum is a bacterium with promising applications to the food industry and agriculture and probiotic properties. So far, bacteriophages of this bacterium have been moderately addressed. We examined the diversity of five new L. plantarum phages via whole genome shotgun sequencing and in silico protein predictions. Moreover, we looked into their phylogeny and their potential genomic similarities to other complete phage genome records through extensive nucleotide and protein comparisons. These analyses revealed a high degree of similarity among the five phages, which extended to the vast majority of predicted virion-associated proteins. Based on these, we selected one of the phages as a representative and performed transmission electron microscopy and structural protein sequencing tests. Overall, the results suggested that the five phages belong to the family Myoviridae, they have a long genome of 137.973-141.344 bp, a G/C content of 36,3-36,6% that is quite distinct from their host’s, and, surprisingly, seven to 15 tRNAs. Only an average 41/174 of their predicted genes were assigned a function. The comparative analyses unraveled considerable genetic diversity for the five L. plantarum phages of this study. Hence, the new genus “Semelevirus” was proposed, which comprises exclusively the five phages. This novel lineage of Lactobacillus phages provides further insight into the genetic heterogeneity of phages infecting Lactobacillus sp.. The five new Lactobacillus phages have a potential value for the development of more robust starters through, for example, the selection of mutants insensitive to phage infections. The five phages could also form part of phage cocktails, which producers would apply in different stages of L. plantarum fermentations in order to create a range of organoleptic outputs.

Most natural language processing (NLP) tasks operate an input sentence as a sequence with token-level embeddings and features, despite its clausal structures. Taking Abstract Meaning Representation (AMR) parsing as an example, recent parsers are empowered by Transformers and pre-trained language models, but long-distance dependencies (LDDs) introduced by long sequences are still open problems. We argue that LDDs are not superficially blamed on the sequence length but are essentially related to the internal clause hierarchy. Typically, non-verb words in a clause cannot depend on words outside, and verbs from different but related clauses have much longer dependencies than those in the same clause. With this intuition, we introduce a type of clausal feature, hierarchical clause annotation (HCA), into AMR parsing and propose two HCA-based approaches, HCA-based self-attention (HCA-SA) and HCA-based curriculum learning (HCA-CL), to integrate HCA trees of complex sentences for addressing LDDs. We conduct extensive experiments on two in-distribution (ID) AMR datasets (AMR 2.0 and AMR 3.0) and three out-of-distribution (OOD) ones (TLP, New3, and Bio). Experimental results show that our HCA-based approaches achieve significant and explainable improvements against the baseline model and outperform the state-of-the-art (SOTA) model when encountering sentences with complex clausal structures that introduce most LDD cases.

As the prevalence of antimicrobial resistance genes is increasing in microbes, we are facing the return of the preantibiotic era. Consecutively, the number of studies concerning antibiotic resistance and its spread in the environment is rapidly growing. Next generation sequencing technologies are widespread used in many areas of biological research and antibiotic resistance is no exception. For the rapid annotation of whole genome sequencing and metagenomic results considering antibiotic resistance, several tools and data resources were developed. These databases, however can differ fundamentally in the number and type of genes and resistance determinants they comprise. Furthermore, the annotation structure and metadata stored in these resources can also contribute to their differences. Several previous reviews were published on the tools and databases of resistance gene annotation, however, to our knowledge, no previous review focused solely and in depth on the differences in the databases. In this review, we compare the most well-known and widely used antibiotic resistance gene databases based on their structure and content. We believe that this knowledge is fundamental for selecting the most appropriate database for a research question and for the development of new tools and resources of resistance gene annotation.

Members of the DUF34 (domain of unknown function 34) family, also known as the NIF3 protein superfamily, are ubiquitous across superkingdoms. Proteins of this family have been widely annotated as “GTP cyclohydrolase I type 2” through electronic propagation based on one study. Here, the annotation status of this protein family was examined through comprehensive literature review and integrative bioinformatic analyses that revealed varied pleiotropic associations and phenotypes. This analysis combined with functional complementation studies strongly challenges the current annotation and suggests that DUF34 family members may serve as metal ion insertases, chaperones, or metallocofactor maturases. This general molecular function could explain how DUF34 subgroups participate in highly diversified pathways such as cell differentiation, metal ion homeostasis, pathogen virulence, redox and universal stress responses.

The rapid evolution of Next Generation Sequencing in clinical settings and the resulting challenge of variants interpretation in the light of constantly updated information, requires robust data management systems and organized approaches to variant reinterpretation. In this paper, we present iVar: a freely available and highly customizable tool provided with a user-friendly web interface. It represents a platform for the unified management of variants identified by different sequencing technologies. iVar accepts, as input, VCF files and text annotation files and elaborates them, optimizing data organization and avoiding redundancies. Updated annotations can be periodically re-uploaded and associated to variants as historicize attributes. Data can be visualized through variant-centered and sample-centered interfaces. A customizable search functionality can be exploited to periodically check if pathogenicity related data of a variant are changed over time. Patient recontacting ensuing from variant reinterpretation is made easier by iVar through the effective identification of all patients present in the database and carrying a specific variant. We tested iVar by uploading 4171 VCF files and 1463 annotation files, obtaining a database of 4166 samples and 22569 unique variants. iVar has proven to be a useful tool with good performances for collecting and managing data from medium-throughput

In response to the burgeoning global demand for premium agricultural products, particularly within the competitive nut market, this paper introduces an innovative methodology aimed at enhancing the grading process for almonds and their shells. Leveraging state-of-the-art Deep Convolutional Neural Networks (CNNs), specifically the AlmondNet-20 architecture, our study achieves exceptional accuracy exceeding 99%, facilitated by the utilization of a 20-layer CNN model. To bolster robustness in differentiating between almonds and shells, data augmentation techniques are employed, ensuring the reliability and accuracy of our classification system. Our model, meticulously trained over 1000 epochs, demonstrates remarkable performance, boasting an accuracy rate of 99% alongside a minimal loss function of 0.0567. Rigorous evaluation through test datasets further validates the efficacy of our approach, revealing impeccable precision, recall, and F1-score metrics for almond detection. Beyond its technical prowess, this advanced classification system offers tangible benefits to both industry experts and non-specialists alike, ensuring globally reliable almond classification. The application of deep learning algorithms, as showcased in our study, not only enhances grading accuracy but also presents opportunities for product patents, thereby contributing to the economic value of our nation. Through the adoption of cutting-edge technologies such as the AlmondNet-20 model, we pave the way for future advancements in agricultural product classification, ultimately enriching global trade and economic prosperity.

Most natural language processing (NLP) tasks suffer performance degradation when encountering long complex sentences, such as semantic parsing, syntactic parsing, machine translation, and text summarization. Previous works address the issue with an intuition of decomposing complex sentences and linking simple ones, such as RST-style discourse parsing, split-and-rephrase (SPRP), text simplification (TS), simple-sentence-decomposition (SSD), etc. However, these works are not applicable for semantic parsing like abstract meaning representation (AMR) parsing and semantic dependency parsing due to misalignments to semantic relations and unavailabilities to preserve original semantics. Following the same intuition and avoiding deficiencies of previous works, we propose a novel framework, hierarchical clause annotation (HCA), based on the linguistic research of clause hierarchy. With the HCA framework, we annotate a large HCA corpus to explore the potentialities of integrating HCA structural features into semantic parsing with complex sentences. Moreover, we decompose HCA into two subtasks, i.e., clause segmentation and clause parsing, and provide neural baseline models for more silver annotations.

Next-generation sequencing is now a mature technology, allowing partial animal genomes to be produced for many clades. Though many software exist for genome assembly and annotation, a simple pipeline that allows researchers to input raw sequencing reads in fastq format and allow the retrieval of a completely assembled and annotated mitochondrial genome is still missing. mitoMaker 1.0 is a pipeline developed in python that implements (i) recursive de novo assembly of mitochondrial genomes using a set of increasing k-mers; (ii) search for the best matching result to a target mitogenome and; (iii) performs iterative reference-based strategies to optimize the assembly. After (iv) checking for circularization and (v) positioning tRNA-Phe at the beginning, (vi) geneChecker.py module performs a complete annotation of the mitochondrial genome and provides a GenBank formatted file as output.

During its first month, the recently emerged 2019 Wuhan novel coronavirus (SARS-CoV-2) has already infected many thousands of people in mainland China and worldwide and took hundreds of lives. However, the swiftly spreading virus also caused an unprecedentedly rapid response from the research community facing the unknown health challenge of potentially enormous proportions. Unfortunately, the experimental research to understand the molecular mechanisms behind the viral infection and to design a vaccine or antivirals is costly and takes months to develop. To expedite the advancement of our knowledge we leverage the data about the related coronaviruses that is readily available in public databases, and integrate these data into a single computational pipeline. As a result, we provide a comprehensive structural genomics and interactomics road-maps of SARS-CoV-2 and use these information to infer the possible functional differences and similarities with the related SARS coronavirus. All data are made publicly available to the research community at http://korkinlab.org/wuhan .

Due to low culturing costs and high seed protein contents, legumes represent the main global source of food protein. Pea (Pisum sativum L.) is one of the major economically important legume crops, impacting both animal feed and human nutrition. Therefore, the quality of pea seeds needs to be ensured in the context of sustainable crop production and nutritional efficiency. Obviously, changes in seed protein patterns might directly affect both of these aspects. Thus, here we address the pea seed proteome in more detail and provide, to the best of our knowledge, the most comprehensive annotation of the functions and intracellular localization of pea seed proteins. Accordingly, 1938 and 1989 non-redundant proteins were identified in yellow and green pea seeds, in total. Only 35 and 44 proteins, respectively, could be additionally identified after protamine sulfate precipitation (PSP) potentially indicating the high efficiency of our experimental workflow. In total 981 protein groups could be assigned to 34 functional classes, which were to a large extent differentially represented in yellow and green seeds. Closer analysis of these differences by processing of the data in KEGG and String databases revealed their possible relation to a higher metabolic status and reduced longevity of green seeds.

Glycosyl inositol phospho ceramides (GIPCs) are the major sphingolipids on earth as they account for a considerable fraction of the total lipids in plants and fungi which in turn represent a large portion of the biomass on earth. Despite their obvious importance, GIPC analysis remains challenging due to the lack of commercial standards and automated annotation software. In this work, we introduce a novel GIPC glycolipidomics workflow based on reversed-phase ultra-high pressure liquid chromatography coupled to high-resolution mass spectrometry. For the first time, automated GIPC assignment was performed using the open-source software Lipid Data Analyzer based on platform-independent decision rules. Four different plant samples (salad, spinach, raspberry, strawberry) were analyzed and revealed 64 GIPCs based on accurate mass, characteristic MS2 fragments and matching retention times. Relative quantification using lactosyl ceramide for internal standardization revealed GIPC t18:1/h24:0 as the most abundant species in all plants. Depending on the plant sample, GIPCs contained mainly amine, N-acetylamine or hydroxyl residues. Most GIPCs revealed a Hex-HexA-IPC core and contained a ceramide part with a trihydroxylated t18:0 or t18:1 long chain base and hydroxylated fatty acid chains ranging from 16 to 26 carbon atoms in length (h16:0 – h26:0). Interestingly, six GIPCs containing t18:2 were observed in raspberry, which was not reported so far. The presented workflow supports the characterization of different plant samples by automatic GIPC assignment potentially leading to the identification of new GIPCs. For the first time, automated high‑throughput profiling of these complex glycolipids is possible by liquid chromatography-high-resolution mass spectrometry and subsequent automated glycolipid annotation based on decision rules.

Genetic testing allows for identification of germline DNA variations which are associated with a significant increase in risk of developing breast and ovarian cancer. Detection of a BRCA1 or BRCA2 pathogenic variant triggers several clinical management actions, which may include increased surveillance and prophylactic surgery for healthy carriers or treatment with PARP inhibitor therapy for carriers diagnosed with cancer. Thus, standardized validated criteria for annotation of BRCA1 and BRCA2 variants according to their pathogenicity are necessary to support clinical decision making and ensure improved outcomes. Upon detection, variants whose pathogenicity can be inferred by the genetic code are typically classified as pathogenic, likely pathogenic, likely benign, or benign. Variants whose impact on function cannot be directly inferred by the genetic code are labeled as Variants of Uncertain Clinical Significance (VUS) and are evaluated by multifactorial likelihood models that use personal and family history of cancer, segregation data, prediction tools, and co-occurrence with a pathogenic BRCA variant. Missense variants, coding alterations that replace a single amino acid residue with another, are a class of variants for which determination of clinical relevance is particularly challenging. Here, we discuss current issues in variant classification by following a typical life cycle of a BRCA1 missense variant through detection, annotation and information dissemination. Advances in massively parallel sequencing have led to a substantial increase in VUS findings. Although comprehensive assessment and classification of missense variants according to their pathogenicity remains the bottle neck, new developments in functional analysis, high throughput assays, data sharing, and statistical models are rapidly changing this scenario.