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Archival DNA samples collected and analysed for a range of research and applied questions have accumulated in the laboratories of universities, government agencies and commercial service providers for decades. These DNA archives represent a valuable, yet largely un‐tapped repository of genomic information. With lowering costs of, and increasing access to, high‐throughput sequencing, we predict an increase in retrospective research to explore the wealth of information that resides in these archival samples. However, for this to occur, we need confidence in the integrity of the DNA samples, often stored under suboptimal conditions and their fitness of purpose for downstream genomic analysis.Here, we borrow from a well‐established concept in ancient DNA to evaluate sample integrity, defined as loss of information content in recovered amplicons, of frozen DNA samples and based on the ratio of ⍺‐diversity of short‐ and long‐read 16S rRNA gene sequences.The 16S rRNA variable region of 87 stored DNA samples, extracted from soil, collected from western and southern agricultural regions of Australia between 2001 and 2021 were sequenced using both PacBio full length reads (V1–V9, 1.5 kbp) and Illumina short‐reads (V3–V4, 200–450 bp). When ⍺‐diversity ratios were calculated between the long and short reads to assess DNA degradation, the ratio of ⍺‐diversity did not decrease in older samples versus younger samples.We suggest this as a novel method to confirm integrity of DNA before embarking on large‐scale diversity profiling projects using archival DNA. [ABSTRACT FROM AUTHOR]

Abstract Archival DNA samples collected and analysed for a range of research and applied questions have accumulated in the laboratories of universities, government agencies and commercial service providers for decades. These DNA archives represent a valuable, yet largely un‐tapped repository of genomic information. With lowering costs of, and increasing access to, high‐throughput sequencing, we predict an increase in retrospective research to explore the wealth of information that resides in these archival samples. However, for this to occur, we need confidence in the integrity of the DNA samples, often stored under suboptimal conditions and their fitness of purpose for downstream genomic analysis. Here, we borrow from a well‐established concept in ancient DNA to evaluate sample integrity, defined as loss of information content in recovered amplicons, of frozen DNA samples and based on the ratio of ⍺‐diversity of short‐ and long‐read 16S rRNA gene sequences. The 16S rRNA variable region of 87 stored DNA samples, extracted from soil, collected from western and southern agricultural regions of Australia between 2001 and 2021 were sequenced using both PacBio full length reads (V1–V9, 1.5 kbp) and Illumina short‐reads (V3–V4, 200–450 bp). When ⍺‐diversity ratios were calculated between the long and short reads to assess DNA degradation, the ratio of ⍺‐diversity did not decrease in older samples versus younger samples. We suggest this as a novel method to confirm integrity of DNA before embarking on large‐scale diversity profiling projects using archival DNA.

The precise classification of DNA sequences is pivotal in genomics, holding significant implications for personalized medicine. The stakes are particularly high when classifying key genetic markers such as BRAC, related to breast cancer susceptibility; BRAF, associated with various malignancies; and KRAS, a recognized oncogene. Conventional machine learning techniques often necessitate intricate feature engineering and may not capture the full spectrum of sequence dependencies. To ameliorate these limitations, this study employs an adapted U-Net architecture, originally designed for biomedical image segmentation, to classify DNA sequences.The attention mechanism was also tested LONG WITH u-Net architecture to precisely classify DNA sequences into BRAC, BRAF, and KRAS categories. Our comprehensive methodology includes rigorous data preprocessing, model training, and a multi-faceted evaluation approach. The adapted U-Net model exhibited exceptional performance, achieving an overall accuracy of 0.96. The model also achieved high precision and recall rates across the classes, with precision ranging from 0.93 to 1.00 and recall between 0.95 and 0.97 for the key markers BRAC, BRAF, and KRAS. The F1-score for these critical markers ranged from 0.95 to 0.98. These empirical results substantiate the architecture's capability to capture local and global features in DNA sequences, affirming its applicability for critical, sequence-based bioinformatics challenges.

DNA viruses that produce persistent infections have been proposed as potential causes for the extinction of Neanderthals, and, therefore, the identification of viral genome remnants in Neanderthal sequence reads is an initial step to address this hypothesis. Here, as proof of concept, we searched for viral remnants in sequence reads of Neanderthal genome data by mapping to adenovirus, herpesvirus and papillomavirus, which are double-stranded DNA viruses that may establish lifelong latency and can produce persistent infections. The reconstructed ancient viral genomes of adenovirus, herpesvirus and papillomavirus revealed conserved segments, with nucleotide identity to extant viral genomes and variable regions in coding regions with substantial divergence to extant close relatives. Sequence reads mapped to extant viral genomes showed deamination patterns of ancient DNA, and these ancient viral genomes showed divergence consistent with the age of these samples (≈50,000 years) and viral evolutionary rates (10−5 to 10−8 substitutions/site/year). Analysis of random effects showed that the Neanderthal mapping to genomes of extant persistent viruses is above what is expected by random similarities of short reads. Also, negative control with a nonpersistent DNA virus does not yield statistically significant assemblies. This work demonstrates the feasibility of identifying viral genome remnants in archaeological samples with signal-to-noise assessment. [ABSTRACT FROM AUTHOR]

The precise classification of DNA sequences is pivotal in genomics, holding significant implications for personalized medicine. The stakes are particularly high when classifying key genetic markers such as BRAC, related to breast cancer susceptibility; BRAF, associated with various malignancies; and KRAS, a recognized oncogene. Conventional machine learning techniques often necessitate intricate feature engineering and may not capture the full spectrum of sequence dependencies. To ameliorate these limitations, this study employs an adapted U-Net architecture, originally designed for biomedical image segmentation, to classify DNA sequences.The attention mechanism was also tested LONG WITH u-Net architecture to precisely classify DNA sequences into BRAC, BRAF, and KRAS categories. Our comprehensive methodology includes rigorous data preprocessing, model training, and a multi-faceted evaluation approach. The adapted U-Net model exhibited exceptional performance, achieving an overall accuracy of 0.96. The model also achieved high precision and recall rates across the classes, with precision ranging from 0.93 to 1.00 and recall between 0.95 and 0.97 for the key markers BRAC, BRAF, and KRAS. The F1-score for these critical markers ranged from 0.95 to 0.98. These empirical results substantiate the architecture's capability to capture local and global features in DNA sequences, affirming its applicability for critical, sequence-based bioinformatics challenges. [ABSTRACT FROM AUTHOR]

Prey metabarcoding has become a popular tool in molecular ecology for resolving trophic interactions at high resolution, from various sample types and animals. To date, most predator–prey studies of small‐sized animals (<1 mm) have met the problem of overabundant predator DNA in dietary samples by adding blocking primers/peptide nucleic acids. These primers aim to limit the PCR amplification and detection of the predator DNA but may introduce bias to the prey composition identified by interacting with sequences that are similar to those of the predator. Here we demonstrate the use of an alternative method to explore the prey of small marine copepods using whole‐body DNA extracts and deep, brute force metabarcoding of an 18S rDNA fragment. After processing and curating raw data from two sequencing runs of varying depths (0.4 and 5.4 billion raw reads), we isolated 1.3 and 52.2 million prey reads, with average depths of ~15,900 and ~120,000 prey reads per copepod individual, respectively. While data from both sequencing runs were sufficient to distinguish dietary compositions from disparate seasons, locations, and copepod species, greater sequencing depth led to better separation of clusters. As computation and sequencing are becoming ever more powerful and affordable, we expect the brute force approach to become a general standard for prey metabarcoding, as it offers a simple and affordable solution to consumers that is impractical to dissect or unknown to science. [ABSTRACT FROM AUTHOR]

Abstract Prey metabarcoding has become a popular tool in molecular ecology for resolving trophic interactions at high resolution, from various sample types and animals. To date, most predator–prey studies of small‐sized animals (

Cemetery soils most likely contain degradative bacteria which possibly have beneficial potencies. However, the bacterial exploration in these potencies is still limitedly conducted in Indonesia. The raw sequence data of total bacteria in the cemetery soils through metagenomic analysis have been revealed. The data were obtained by collecting soil samples from six spots of two major Cemetery areas, which were Pracimaloyo (P) and Bonoloyo (B), in Surakarta City, Central Java, Indonesia. The six sample spots consisted of two samples from P area with respectively 20 cm and 140 cm depths and four samples of each two samples from B area with 20 and 40 cm depths. The total DNA was subsequently extracted from the collected soils using ZymoBIOMICS DNA Miniprep Kit. The total DNA then was amplified using a couple of 16S rRNA primers through Illumina HiSeq 2500 PE250 (Novogen, Korea) environment system. The raw sequence data has been submitted to the National Center for Biotechnology Information (NCBI) with project ID PRJNA997385. The archived sequence can be accessed in the NCBI website with the following URLs https://www.ncbi.nlm.nih.gov/sra/PRJNA997385. A brief analysis of the sequence data showed that the most common phyla in 20 cm-depths were Proteobacteria (29.5%), Actinobacteria (21.6%), and Firmicutes (19.2%), while Actinobacteria were the most found in 140 cm-depths with 34.2% followed by Proteobacteria (21.9%) and Firmicutes (16.6%). This data would be the first report of total bacterial sequence from cemetery soils in Indonesia.

Big data analytics has become a significant trend for many businesses as a result of the daily acquisition of enormous volumes of data. This information has been gathered because it may be important for dealing with complicated problems including fraud, marketing, healthcare, and cyber security. Analytics are used by big businesses like Facebook and Google to analyse and make decisions about their massive volumes of collected data. Such analyses and decisions impact both the present and the future of technology. The inherent non-linear properties in huge data may be captured by deep learning (DL) algorithms using automated feature extraction techniques. In order to estimate renewable energy, energy consumption, demand, and supply, among other things, over the short, medium, and long term, a complete and in-depth investigation of generative, hybrid, and discriminative DL models is being conducted. This article examines the benefits and drawbacks of DL that depends on a variety of deep neural networks, including recurrent neural networks, multilayer neural networks, auto encoders and long short-term memory. [ABSTRACT FROM AUTHOR]

Metagenomic data compression is very important as metagenomic projects are facing the challenges of larger data volumes per sample and more samples nowadays. Reference-based compression is a promising method to obtain a high compression ratio. However, existing microbial reference genome databases are not suitable to be directly used as references for compression due to their large size and redundancy, and different metagenomic cohorts often have various microbial compositions. We present a novel pipeline that generated simplified and tailored reference genomes for large metagenomic cohorts, enabling the reference-based compression of metagenomic data. We constructed customized reference genomes, ranging from 2.4 to 3.9 GB, for 29 real metagenomic datasets and evaluated their compression performance. Reference-based compression achieved an impressive compression ratio of over 20 for human whole-genome data and up to 33.8 for all samples, demonstrating a remarkable 4.5 times improvement than the standard Gzip compression. Our method provides new insights into reference-based metagenomic data compression and has a broad application potential for faster and cheaper data transfer, storage, and analysis. [ABSTRACT FROM AUTHOR]

The COVID-19 pandemic continues to impact daily life worldwide. It would be helpful and valuable if we could obtain valid information from the COVID-19 pandemic sequential data itself for characterizing the pandemic. Here, we aim to demonstrate that it is feasible to analyze the patterns of the pandemic using a time-series clustering approach. In this work, we use dynamic time warping distance and hierarchical clustering to cluster time series of daily new cases and deaths from different countries into four patterns. It is found that geographic factors have a large but not decisive influence on the pattern of pandemic development. Moreover, the age structure of the population may also influence the formation of cluster patterns. Our proven valid method may provide a different but very useful perspective for other scholars and researchers.

DNA viruses that produce persistent infections have been proposed as potential causes for the extinction of Neanderthals, and, therefore, the identification of viral genome remnants in Neanderthal sequence reads is an initial step to address this hypothesis. Here, as proof of concept, we searched for viral remnants in sequence reads of Neanderthal genome data by mapping to adenovirus, herpesvirus and papillomavirus, which are double-stranded DNA viruses that may establish lifelong latency and can produce persistent infections. The reconstructed ancient viral genomes of adenovirus, herpesvirus and papillomavirus revealed conserved segments, with nucleotide identity to extant viral genomes and variable regions in coding regions with substantial divergence to extant close relatives. Sequence reads mapped to extant viral genomes showed deamination patterns of ancient DNA, and these ancient viral genomes showed divergence consistent with the age of these samples (≈50,000 years) and viral evolutionary rates (10−5 to 10−8 substitutions/site/year). Analysis of random effects showed that the Neanderthal mapping to genomes of extant persistent viruses is above what is expected by random similarities of short reads. Also, negative control with a nonpersistent DNA virus does not yield statistically significant assemblies. This work demonstrates the feasibility of identifying viral genome remnants in archaeological samples with signal-to-noise assessment.

The surface electromyography (sEMG) signal is a complex interference pattern resulting from the electrical activity of contracting muscles, which directly correlates with muscle activity and exercise level. Patellofemoral osteoarthritis (PF OA) refers to the softening and destruction of the articular cartilage of the knee cap, which is important to diagnose in the early phase. The aim of this study is to develop a predictive model, called the Enhanced Sequencing Deep Learning (PESDL) Algorithm, to detect PF OA from the sEMG signal. The algorithm consists of four main modules: (i) Data Acquisition Module (DAM), (ii) Signal Preprocessing Module (SPM), (iii) Data Augmentation and Concatenation Module (DACM), and (iv) Lower Limb Classification (LLC). The sEMG signals from five core muscles of the lower limb were acquired during stepping stairs up and down, and machine learning was used to obtain the muscle activation data signals. The acquired data was preprocessed, augmented, concatenated, and shuffled. Three feedforward deep networks (RNN, LSTM, and GRU) were used to classify the lower limb sEMG time-sequence data, with the GRU network showing better performance than the other two. The model's performance was evaluated using seven performance measures and 10-fold cross-validation. The maximum values of feedforward deep networks (RNN), LSTM, and GRU for the five muscles (RF, BF, VM, ST, and FX) using seven performance measures were as follows: RNN (0.961, 0.154, 0.943, 0.244, 1.0, 1.0, 0.899), LSTM (0.967, 0.147, 0.945, 0.217, 0.997, 1.0, 0.927), and GRU (0.976, 0.111, 0.949, 0.212, 0.996, 0.998, 0.938), respectively, listed in the order of accuracy, loss, validation accuracy, validation loss, recall, precision, and F1-score. Comparisons with other state-of-the-art models using the same datasets demonstrated the effective performance of the predictive model. The results suggest that RNN models, particularly GRU and LSTM, can be effective for detecting PF OA, and the specific RNN architecture used can have a significant impact on performance.

Research from a range of disciplines highlights the need to adopt a life course perspective that considers earlier life courses to explain outcomes in later life (e.g. later life health, cognitive ageing or retirement behaviour). This includes a more comprehensive assessment of earlier life courses over time and of how they are shaped by societal and political contexts. But quantitative data with detailed information on life courses that allow to address these questions are rare. Or, in case the data are available, the data are rather difficult to handle and appears to be underused. This contribution introduces the harmonized life history data from the gateway to global ageing data platform from two European Surveys, SHARE and ELSA, with data from 30 European countries. Besides providing some details on the collection of life history data in the two surveys, we also describe the way how raw data were rearranged in a user-friendly state sequence format and additionally give some examples based on the resulting data. This illustrates the potential of collected life history data from SHARE and ELSA, clearly going beyond the description of single aspects of the life course. By providing harmonized data of two prominent studies on ageing in Europe in a user-friendly format, the gateway to global ageing data platform provides a unique data source that is easily accessible for research, and permits to study life course and their links to later life in a cross-national perspective. [ABSTRACT FROM AUTHOR]

Metagenomic data compression is very important as metagenomic projects are facing the challenges of larger data volumes per sample and more samples nowadays. Reference-based compression is a promising method to obtain a high compression ratio. However, existing microbial reference genome databases are not suitable to be directly used as references for compression due to their large size and redundancy, and different metagenomic cohorts often have various microbial compositions. We present a novel pipeline that generated simplified and tailored reference genomes for large metagenomic cohorts, enabling the reference-based compression of metagenomic data. We constructed customized reference genomes, ranging from 2.4 to 3.9 GB, for 29 real metagenomic datasets and evaluated their compression performance. Reference-based compression achieved an impressive compression ratio of over 20 for human whole-genome data and up to 33.8 for all samples, demonstrating a remarkable 4.5 times improvement than the standard Gzip compression. Our method provides new insights into reference-based metagenomic data compression and has a broad application potential for faster and cheaper data transfer, storage, and analysis.

The hyperspectral image (HSI) has nearly continuous spectral information; thus, the target of interest can be accurately identified by the subtle details of spectral properties. Spectral resolution at different scales can capture different levels of spectral features: Small-scale spectral bands are beneficial for extracting global details in vision transformers, while large-scale spectral bands are more effective for local features. Transformer shows advantages in global information extraction with self-attention module and even surpasses convolutional neural network (CNNs) in various tasks. Some works based on the vision transformer have performed surprisingly in HSI classification. However, single-scale vision transformers are insufficient to balance the extraction of local details and redundancy on different scales. The recent work, a multiscale vision transformer, has provided a solution with spatial patch-wise features in image classification. Inspired by this, we propose the cross-spectral vision transformer (CSiT) with two branches to extract pixel-wise multiscale features and further design a multiscale spectral embedding module to enhance local details between neighboring spectral bands. Moreover, based on the cross-attention operation, a single token for each branch is recognized as a query and used to exchange information with other branches. We evaluate the classification performance of the proposed CSiT in three classic HSI datasets with extensive experiments, showing the multiscale vision transformer architecture has a promising result for HSI classification with 1-D spectral bands.

In recent years, DNA barcoding has rapidly developed as a powerful tool in taxonomy, demonstrating its value in species identification and discovery of cryptic diversity. The number of barcoding sequences of various species continues to grow in the GenBank and BOLD databases; however, the accuracy of sequences and related raw information in public repositories is often questionable. In the present study, based on a dataset of 68,089 Hemiptera COI barcode sequences covering 3,064 species, 1,072 genera, and 48 families, we analyzed genetic differences within and between species and evaluated possible data errors in the insect barcodes. The results showed that errors in the barcode data are not rare, and most of them are due to human errors, such as specimen misidentification, sample confusion, and contamination. A significant portion of these errors can be attributed to inappropriate and imprecise practices in the DNA barcoding workflow. Herein, suggestions are provided to improve the practical operations and workflow of DNA barcoding to reduce human errors.

Here we developed KARAJ, a fast and flexible Linux command-line tool to automate the end-to-end process of querying and downloading a wide range of genomic and transcriptomic sequence data types. The input to KARAJ is a list of PMCIDs or publication URLs or various types of accession numbers to automate four tasks as follows; firstly, it provides a summary list of accessible datasets generated by or used in these scientific articles, enabling users to select appropriate datasets; secondly, KARAJ calculates the size of files that users want to download and confirms the availability of adequate space on the local disk; thirdly, it generates a metadata table containing sample information and the experimental design of the corresponding study; and lastly, it enables users to download supplementary data tables attached to publications. Further, KARAJ provides a parallel downloading framework powered by Aspera connect which reduces the downloading time significantly. [ABSTRACT FROM AUTHOR]

To pursue higher accuracy, the structure of deep learning model is getting more and more complex, with deeper and deeper network. The increase in the number of parameters means that more data are needed to train the model. However, manually labeling data is costly, and it is not easy to collect data in some specific fields limited by objective reasons. As a result, data insufficiency is a very common problem. Data augmentation is here to alleviate the problem by artificially generating new data. The success of data augmentation in the field of computer vision leads people to consider using similar methods on sequence data. In this paper, not only the time-domain methods such as flipping and cropping but also some augmentation methods in frequency domain are described. In addition to experience-based or knowledge-based methods, detailed descriptions on machine learning models used for automatic data generation such as GAN are also included. Methods that have been widely applied to various sequence data such as text, audio and time series are mentioned with their satisfactory performance in issues like medical diagnosis and emotion classification. Despite the difference in data type, these methods are designed with similar ideas. Using these ideas as a clue, various data augmentation methods applied to different types of sequence data are introduced, and some discussions and prospects are made.

In this paper, we present a novel face-based random walk method aimed at addressing the 3D semantic segmentation issue. Our method utilizes a one-dimensional convolutional neural network for detailed feature extraction from sequences of triangular faces and employs a stacked gated recurrent unit to gather information along the sequence during training. This approach allows us to effectively handle irregular meshes and utilize the inherent feature extraction potential present in mesh geometry. Our study's results show that the proposed method achieves competitive results compared to the state-of-the-art methods in mesh segmentation. Importantly, it requires fewer training iterations and demonstrates versatility by applying to a wide range of objects without the need for the mesh to adhere to manifold or watertight topology requirements. • Segment 3D meshes using a hybrid architecture, gated recurrent units, and 1D convolutional neural networks. • Extraction of geometric features from 3D mesh faces using mathematical algorithms; random walks. • Apply deep learning algorithms to irregular 3D data without considering whether each mesh is a manifold or closed. [ABSTRACT FROM AUTHOR]

Here we introduce a MIxS extension to facilitate the recording and cataloguing of metadata from samples related to hydrocarbon resources. The proposed MIxS-HCR package incorporates the core features of the MIxS standard for marker gene (MIMARKS) and metagenomic (MIMS) sequences along with a hydrocarbon resources customized environmental package. Adoption of the MIxS-HCR standard will enable the comparison and better contextualization of investigations related to hydrocarbon rich environments. The insights from such standardized way of reporting could be highly beneficial for the successful development and optimization of hydrocarbon recovery processes and management of microbiological issues in petroleum production systems.

Deep learning models have been successfully applied in a wide range of fields. The creation of a deep learning framework for analyzing high-performance sequence data have piqued the research community's interest. N4 acetylcytidine (ac4C) is a post-transcriptional modification in mRNA, is an mRNA component that plays an important role in mRNA stability control and translation. The ac4C method of mRNA changes is still not simple, time consuming, or cost effective for conventional laboratory experiments. As a result, we developed DL-ac4C, a CNN-based deep learning model for ac4C recognition. In the alternative scenario, the model families are well-suited to working in large datasets with a large number of available samples, especially in biological domains. In this study, the DL-ac4C method (deep learning) is compared to non-deep learning (machine learning) methods, regression, and support vector machine. The results show that DL-ac4C is more advanced than previously used approaches. The proposed model improves the accuracy recall area by 9.6 percent and 9.8 percent, respectively, for cross-validation and independent tests. More nuanced methods of incorporating prior bio-logical knowledge into the estimation procedure of deep learning models are required to achieve better results in terms of predictive efficiency and cost-effectiveness. Based on an experiment's acetylated dataset, the DL-ac4C sequence-based predictor for acetylation sites in mRNA can predict whether query sequences have potential acetylation motifs. [ABSTRACT FROM AUTHOR]

Background: The mammalian immune system is able to generate antibodies against a huge variety of antigens, including bacteria, viruses, and toxins. The ultradeep DNA sequencing of rearranged immunoglobulin genes has considerable potential in furthering our understanding of the immune response, but it is limited by the lack of a high-throughput, sequence-based method for predicting the antigen(s) that a given immunoglobulin recognizes. Objective: As a step toward the prediction of antibody-antigen binding from sequence data alone, we aimed to compare a range of machine learning approaches that were applied to a collated data set of antibody-antigen pairs in order to predict antibody-antigen binding from sequence data. Methods: Data for training and testing were extracted from the Protein Data Bank and the Coronavirus Antibody Database, and additional antibody-antigen pair data were generated by using a molecular docking protocol. Several machine learning methods, including the weighted nearest neighbor method, the nearest neighbor method with the BLOSUM62 matrix, and the random forest method, were applied to the problem. Results: The final data set contained 1157 antibodies and 57 antigens that were combined in 5041 antibody-antigen pairs. The best performance for the prediction of interactions was obtained by using the nearest neighbor method with the BLOSUM62 matrix, which resulted in around 82% accuracy on the full data set. These results provide a useful frame of reference, as well as protocols and considerations, for machine learning and data set creation in the prediction of antibody-antigen binding. Conclusions: Several machine learning approaches were compared to predict antibody-antigen interaction from protein sequences. Both the data set (in CSV format) and the machine learning program (coded in Python) are freely available for download on GitHub. [ABSTRACT FROM AUTHOR]

Abstract Background Goats were domesticated 10,500 years ago to supply humans with useful resources. Since then, specialized breeds that are adapted to their local environment have been developed and display specific genetic profiles. The VarGoats project is a 1000 genomes resequencing program designed to cover the genetic diversity of the Capra genus. In this study, our main objective was to assess the use of sequence data to detect genomic regions associated with traits of interest in French Alpine and Saanen breeds. Results Direct imputation from the GoatSNP50 BeadChip genotypes to sequence level was investigated in these breeds using FImpute and different reference panels: within-breed, all Capra hircus sequenced individuals, European goats and French mainland goats. The best results were obtained with the French goat panel with allele and genotype concordance rates reaching 0.86 and 0.75 in the Alpine and 0.86 and 0.73 in the Saanen breed respectively. Mean correlations tended to be low in both breeds due to the high proportion of variants with low frequencies. For association analysis, imputation was performed using FImpute for 1129 French Alpine and Saanen males using within-breed and French panels on 23,338,436 filtered variants. The association results of both imputation scenarios were then compared. In Saanen goats, a large region on chromosome 19 was significantly linked to semen volume and milk yield in both scenarios. Significant variants for milk yield were annotated for 91 genes on chromosome 19 in Saanen goats. For semen volume, the annotated genes include YBOX2 which is related to azoospermia or oligospermia in other species. New signals for milk yield were detected on chromosome 2 in Alpine goats and on chromosome 5 in Saanen goats when using a multi-breed panel. Conclusion Even with very small reference populations, an acceptable imputation quality can be achieved in French dairy goats. GWAS on imputed sequences confirmed the existence of QTLs and identified new regions of interest in dairy goats. Adding identified candidates to a genotyping array and sequencing more individuals might corroborate the involvement of identified regions while removing potential imputation errors.

Real or imputed high-density SNP genotypes are routinely used for genomic prediction and genome-wide association studies. Many researchers are moving toward the use of actual or imputed next-generation sequence data in whole-genome analyses. Simulation studies are useful to mimic complex scenarios and test different analytical methods. We have developed the software tool XSim to efficiently simulate sequence data in descendants in arbitrary pedigrees. In this software, a strategy to drop-down origins and positions of chromosomal segments rather than every allele state is implemented to simulate sequence data and to accommodate complicated pedigree structures across multiple generations. Both C++ and Julia versions of XSim have been developed.

Abstract Background RNA sequencing (RNA-seq) has become the standard means of analyzing gene and transcript expression in high-throughput. While previously sequence alignment was a time demanding step, fast alignment methods and even more so transcript counting methods which avoid mapping and quantify gene and transcript expression by evaluating whether a read is compatible with a transcript, have led to significant speed-ups in data analysis. Now, the most time demanding step in the analysis of RNA-seq data is preprocessing the raw sequence data, such as running quality control and adapter, contamination and quality filtering before transcript or gene quantification. To do so, many researchers chain different tools, but a comprehensive, flexible and fast software that covers all preprocessing steps is currently missing. Results We here present FastqPuri, a light-weight and highly efficient preprocessing tool for fastq data. FastqPuri provides sequence quality reports on the sample and dataset level with new plots which facilitate decision making for subsequent quality filtering. Moreover, FastqPuri efficiently removes adapter sequences and sequences from biological contamination from the data. It accepts both single- and paired-end data in uncompressed or compressed fastq files. FastqPuri can be run stand-alone and is suitable to be run within pipelines. We benchmarked FastqPuri against existing tools and found that FastqPuri is superior in terms of speed, memory usage, versatility and comprehensiveness. Conclusions FastqPuri is a new tool which covers all aspects of short read sequence data preprocessing. It was designed for RNA-seq data to meet the needs for fast preprocessing of fastq data to allow transcript and gene counting, but it is suitable to process any short read sequencing data of which high sequence quality is needed, such as for genome assembly or SNV (single nucleotide variant) detection. FastqPuri is most flexible in filtering undesired biological sequences by offering two approaches to optimize speed and memory usage dependent on the total size of the potential contaminating sequences. FastqPuri is available at https://github.com/jengelmann/FastqPuri. It is implemented in C and R and licensed under GPL v3.

Deep learning models have been successfully applied in a wide range of fields. The creation of a deep learning framework for analyzing high-performance sequence data have piqued the research community’s interest. N4 acetylcytidine (ac4C) is a post-transcriptional modification in mRNA, is an mRNA component that plays an important role in mRNA stability control and translation. The ac4C method of mRNA changes is still not simple, time consuming, or cost effective for conventional laboratory experiments. As a result, we developed DL-ac4C, a CNN-based deep learning model for ac4C recognition. In the alternative scenario, the model families are well-suited to working in large datasets with a large number of available samples, especially in biological domains. In this study, the DL-ac4C method (deep learning) is compared to non-deep learning (machine learning) methods, regression, and support vector machine. The results show that DL-ac4C is more advanced than previously used approaches. The proposed model improves the accuracy recall area by 9.6 percent and 9.8 percent, respectively, for cross-validation and independent tests. More nuanced methods of incorporating prior bio-logical knowledge into the estimation procedure of deep learning models are required to achieve better results in terms of predictive efficiency and cost-effectiveness. Based on an experiment’s acetylated dataset, the DL-ac4C sequence-based predictor for acetylation sites in mRNA can predict whether query sequences have potential acetylation motifs.

We describe adult males and females and a nymph belonging to Linguatula serrata in Australia, based on light and scanning electron microscopies. In addition, 18S and Cox1 sequence data have also been provided and were compared with similar sequences in GenBank. Our specimens had identical 18S sequences and limited genetic distance in Cox1 region which fell within the intra-specific range observed for Linguatula spp. suggesting that they all belong to one species. Phylogenetic analyses showed that Australian specimens were grouped with L. serrata in Europe where the species was first found and described. A number of L. serrata from Iran and Bangladesh formed a distinct group. The genetic distance between these Linguatula and Australian/European L. serrata ranged from 0.46% to 2.21% which is larger than the genetic distance observed between L. arctica and Australian/European L. serrata (0.12%) suggesting that they belong to a different species. As pointed out previously by several other authors, L. serrata comprises more than one species and those from the Palearctic region (including Iran and Bangladesh) should not be automatically named L. serrata unless there is enough evidence for the identification. To accurately address the complex taxonomy of Linguatula spp. a detailed morphological and genetic characterisation of numerous developmental stages of the parasite is necessary, to ensure morphological differences are not due to development. This however may not be achievable in the near future due to significant reduction in expertise as well as research funding awarded in this area of research to understand the basics of our planet. Image 1 • Detailed description of Australian tongue worms. • First genetic characterization of Linguatula serrata in Australia. • Specific identification of Linguatula serrata in Australia. • Taxonomic status of L. dingophila could be valid but requires further investigation. [ABSTRACT FROM AUTHOR]

Background: Goats were domesticated 10,500 years ago to supply humans with useful resources. Since then, specialized breeds that are adapted to their local environment have been developed and display specific genetic profiles. The VarGoats project is a 1000 genomes resequencing program designed to cover the genetic diversity of the Capra genus. In this study, our main objective was to assess the use of sequence data to detect genomic regions associated with traits of interest in French Alpine and Saanen breeds. Results: Direct imputation from the GoatSNP50 BeadChip genotypes to sequence level was investigated in these breeds using FImpute and different reference panels: within-breed, all Capra hircus sequenced individuals, European goats and French mainland goats. The best results were obtained with the French goat panel with allele and genotype concordance rates reaching 0.86 and 0.75 in the Alpine and 0.86 and 0.73 in the Saanen breed respectively. Mean correlations tended to be low in both breeds due to the high proportion of variants with low frequencies. For association analysis, imputation was performed using FImpute for 1129 French Alpine and Saanen males using within-breed and French panels on 23,338,436 filtered variants. The association results of both imputation scenarios were then compared. In Saanen goats, a large region on chromosome 19 was significantly linked to semen volume and milk yield in both scenarios. Significant variants for milk yield were annotated for 91 genes on chromosome 19 in Saanen goats. For semen volume, the annotated genes include YBOX2 which is related to azoospermia or oligospermia in other species. New signals for milk yield were detected on chromosome 2 in Alpine goats and on chromosome 5 in Saanen goats when using a multi-breed panel. Conclusion: Even with very small reference populations, an acceptable imputation quality can be achieved in French dairy goats. GWAS on imputed sequences confirmed the existence of QTLs and identified new regions of interest in dairy goats. Adding identified candidates to a genotyping array and sequencing more individuals might corroborate the involvement of identified regions while removing potential imputation errors. [ABSTRACT FROM AUTHOR]

DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained. Using parent-offspring relationships in a population can considerably improve the quality of the haplotypes obtained from short reads, as pedigree information can be used to correct for spurious overlaps (due to sequencing errors) and insufficient overlaps (due to short read lengths, low genomic variation and shallow coverage). We developed a novel method, PopPoly, to estimate polyploid haplotypes in an F1-population from short sequence data by taking into consideration the transmission of the haplotypes from the parents to the offspring. In addition, this information is employed to improve genotype dosage estimation and to call missing genotypes in the population. Through simulations, we compare PopPoly to other haplotyping methods and show its better performance. We evaluate PopPoly by applying it to a tetraploid potato cross at nine genomic regions involved in tuber formation.

This paper introduces a video dataset for semantic segmentation of road potholes. This dataset contains 619 high-resolution videos captured in January 2023, covering locations in eight villages within the Hulu Sungai Tengah regency of South Kalimantan, Indonesia. The dataset is divided into three main folders, namely train, val, and test. The train, val, and test folders contain 372 videos for training, 124 videos for validation, and 123 videos for testing, respectively. Each of these main folders has two subfolders, ``RGB'' for the video in the RGB format and ``mask'' for the ground truth segmentation. These videos are precisely two seconds long, containing 48 frames each, and all are in MP4 format. The dataset offers remarkable flexibility, accommodating various research needs, from full-video segmentation to frame extraction. It enables researchers to create ground truth annotations and change the combination of videos in the folders according to their needs. This resource is an asset for researchers, engineers, policymakers, and anyone interested in advancing algorithms for pothole detection and analysis. This dataset allows for benchmarking semantic segmentation algorithms, conducting comparative studies on pothole detection methods, and exploring innovative approaches, offering valuable contributions to the computer vision community., (© 2024 The Author(s).)

Causal variants inferred from sequence data analysis are expected to increase accuracy of genomic selection. In this work we evaluated the gain in reliability of genomic predictions, for stature in US Holsteins, when adding selected sequence variants to a pre-existent SNP chip. Two prediction methods were tested: de-regressed proofs assuming heterogeneous (genomic BLUP; GBLUP) residual variances and by single-step GBLUP (ssGBLUP) using actual phenotypes. Phenotypic data included 3,999,631 records for stature on 3,027,304 Holstein cows. Genotypes on 54,087 SNP markers (54k) were available for 26,877 bulls. Additionally, 16,648 selected sequence variants were combined with the 54k markers, for a total of 70,735 (70k) markers. In all methods, SNP in the genomic relationship matrix (G) were unweighted or weighted iteratively, with weights derived either by SNP effects squared or by a nonlinear method that resembles BayesA (nonlinear A). Reliability of genomic predictions were obtained by cross validation. With unweighted G derived from 54k markers, the reliabilities (× 100) were 72.4 for GBLUP and 75.3 for ssGBLUP. With unweighted G derived from 70k markers, the reliabilities were 73.4 and 76.0, respectively. Weighting by nonlinear A changed reliabilities to 73.3, and 75.9, respectively. Addition of selected sequence variants had a small effect on reliabilities. Weighting by quadratic functions reduced reliabilities. Weighting by nonlinear A increased reliabilities for GBLUP but had only a small effect in ssGBLUP. Reliabilities for direct genomic values extracted from ssGBLUP using unweighted G with 54k were higher than reliabilities by any GBLUP. Thus, ssGBLUP seems to capture more information than GBLUP and there is less room for extra reliability. Improvements in GBLUP may be because the weights in G change the covariance structure, which can explain a proportion of the variance that is accounted for when a heterogeneous residual variance is assumed by considering a different number of daughters per bull. [ABSTRACT FROM AUTHOR]

Environmental DNA (eDNA) metabarcoding is a promising method to monitor species and community diversity that is rapid, affordable and non‐invasive. The longstanding needs of the eDNA community are modular informatics tools, comprehensive and customizable reference databases, flexibility across high‐throughput sequencing platforms, fast multilocus metabarcode processing and accurate taxonomic assignment. Improvements in bioinformatics tools make addressing each of these demands within a single toolkit a reality.The new modular metabarcode sequence toolkit Anacapa (https://github.com/limey-bean/Anacapa/) addresses the above needs, allowing users to build comprehensive reference databases and assign taxonomy to raw multilocus metabarcode sequence data. A novel aspect of Anacapa is its database building module, "Creating Reference libraries Using eXisting tools" (CRUX), which generates comprehensive reference databases for specific user‐defined metabarcoding loci. The Quality Control and ASV Parsing module sorts and processes multiple metabarcoding loci and processes merged, unmerged and unpaired reads maximizing recovered diversity. DADA2 then detects amplicon sequence variants (ASVs) and the Anacapa Classifier module aligns these ASVs to CRUX‐generated reference databases using Bowtie2. Lastly, taxonomy is assigned to ASVs with confidence scores using a Bayesian Lowest Common Ancestor (BLCA) method. The Anacapa Toolkit also includes an r package, ranacapa, for automated results exploration through standard biodiversity statistical analysis.Benchmarking tests verify that the Anacapa Toolkit effectively and efficiently generates comprehensive reference databases that capture taxonomic diversity, and can assign taxonomy to both MiSeq and HiSeq‐length sequence data. We demonstrate the value of the Anacapa Toolkit in assigning taxonomy to seawater eDNA samples collected in southern California.The Anacapa Toolkit improves the functionality of eDNA and streamlines biodiversity assessment and management by generating metabarcode specific databases, processing multilocus data, retaining a larger proportion of sequencing reads and expanding non‐traditional eDNA targets. All the components of the Anacapa Toolkit are open and available in a virtual container to ease installation. [ABSTRACT FROM AUTHOR]

Background: RNA sequencing (RNA-seq) has become the standard means of analyzing gene and transcript expression in high-throughput. While previously sequence alignment was a time demanding step, fast alignment methods and even more so transcript counting methods which avoid mapping and quantify gene and transcript expression by evaluating whether a read is compatible with a transcript, have led to significant speed-ups in data analysis. Now, the most time demanding step in the analysis of RNA-seq data is preprocessing the raw sequence data, such as running quality control and adapter, contamination and quality filtering before transcript or gene quantification. To do so, many researchers chain different tools, but a comprehensive, flexible and fast software that covers all preprocessing steps is currently missing. Results: We here present FastqPuri, a light-weight and highly efficient preprocessing tool for fastq data. FastqPuri provides sequence quality reports on the sample and dataset level with new plots which facilitate decision making for subsequent quality filtering. Moreover, FastqPuri efficiently removes adapter sequences and sequences from biological contamination from the data. It accepts both single- and paired-end data in uncompressed or compressed fastq files. FastqPuri can be run stand-alone and is suitable to be run within pipelines. We benchmarked FastqPuri against existing tools and found that FastqPuri is superior in terms of speed, memory usage, versatility and comprehensiveness. Conclusions: FastqPuri is a new tool which covers all aspects of short read sequence data preprocessing. It was designed for RNA-seq data to meet the needs for fast preprocessing of fastq data to allow transcript and gene counting, but it is suitable to process any short read sequencing data of which high sequence quality is needed, such as for genome assembly or SNV (single nucleotide variant) detection. FastqPuri is most flexible in filtering undesired biological sequences by offering two approaches to optimize speed and memory usage dependent on the total size of the potential contaminating sequences. FastqPuri is available at https://github.com/jengelmann/FastqPuri. It is implemented in C and R and licensed under GPL v3. [ABSTRACT FROM AUTHOR]

DNA sequence reads contain information about the genomic variants located on a single chromosome. By extracting and extending this information using the overlaps between the reads, the haplotypes of an individual can be obtained. Using parent-offspring relationships in a population can considerably improve the quality of the haplotypes obtained from short reads, as pedigree information can be used to correct for spurious overlaps (due to sequencing errors) and insufficient overlaps (due to short read lengths, low genomic variation and shallow coverage). We developed a novel method, PopPoly, to estimate polyploid haplotypes in an F1-population from short sequence data by taking into consideration the transmission of the haplotypes from the parents to the offspring. In addition, this information is employed to improve genotype dosage estimation and to call missing genotypes in the population. Through simulations, we compare PopPoly to other haplotyping methods and show its better performance. We evaluate PopPoly by applying it to a tetraploid potato cross at nine genomic regions involved in tuber formation. [ABSTRACT FROM AUTHOR]

Mass spectrometers enable identifying proteins in biological samples leading to biomarkers for biological process parameters and diseases. However, bioinformatic evaluation of the mass spectrometer data needs a standardized workflow and system that stores the protein sequences. Due to its standardization and maturity, relational systems are a great fit for storing protein sequences. Hence, in this work, we present a schema for distributed column-based database management systems using a column-oriented index to store sequence data. In order to achieve a high storage performance, it was necessary to choose a well-performing strategy for transforming the protein sequence data from the FASTA format to the new schema. Therefore, we applied an in-memory map, HDDmap, database engine, and extended radix tree and evaluated their performance. The results show that our proposed extended radix tree performs best regarding memory consumption and runtime. Hence, the radix tree is a suitable data structure for transforming protein sequences into the indexed schema.

Sequence data are expected to increase the reliability of genomic prediction by containing causative mutations directly, especially in cases where low linkage disequilibrium between markers and causative mutations limits prediction reliability, such as across-breed prediction in dairy cattle. In practice, the causative mutations are unknown, and prediction with only variants in perfect linkage disequilibrium with the causative mutations is not realistic, leading to a reduced reliability compared to knowing the causative variants. Our objective was to use sequence data to investigate the potential benefits of sequence data for the prediction of genomic relationships, and consequently reliability of genomic breeding values. We used sequence data from five dairy cattle breeds, and a larger number of imputed sequences for two of the five breeds. We focused on the influence of linkage disequilibrium between markers and causative mutations, and assumed that a fraction of the causative mutations was shared across breeds and had the same effect across breeds. By comparing the loss in reliability of different scenarios, varying the distance between markers and causative mutations, using either all genome wide markers from commercial SNP chips, or only the markers closest to the causative mutations, we demonstrate the importance of using only variants very close to the causative mutations, especially for across-breed prediction. Rare variants improved prediction only if they were very close to rare causative mutations, and all causative mutations were rare. Our results show that sequence data can potentially improve genomic prediction, but careful selection of markers is essential.

Background DNA sequences are pivotal for a wide array of research in biology. Large sequence databases, like GenBank, provide an amazing resource to utilize DNA sequences for large scale analyses. However, many sequence records on GenBank contain more than one gene or are portions of genomes. Inconsistencies in the way genes are annotated and the numerous synonyms a single gene may be listed under provide major challenges for extracting large numbers of subsequences for comparative analysis across taxa. At present, there is no easy way to extract portions from many GenBank accessions based on annotations where gene names may vary extensively. Results The R package AnnotationBustR allows users to extract sequences based on GenBank annotations through the ACNUC retrieval system given search terms of gene synonyms and accession numbers. AnnotationBustR extracts subsequences of interest and then writes them to a FASTA file for users to employ in their research endeavors. Conclusion FASTA files of extracted subsequences and accession tables generated by AnnotationBustR allow users to quickly find and extract subsequences from GenBank accessions. These sequences can then be incorporated in various analyses, like the construction of phylogenies to test a wide range of ecological and evolutionary hypotheses.

DNA sequence analysis is undertaken in many biological research laboratories. The workflow consists of several steps involving the bioinformatic processing of biological data. We have developed a suite of web-based online bioinformatic tools to assist with processing, analysis and curation of DNA sequence data. Most of these tools are genome-agnostic, with two tools specifically designed for hepatitis B virus sequence data. Tools in the suite are able to process sequence data from Sanger sequencing, ultra-deep amplicon resequencing (pyrosequencing) and chromatograph (trace files), as appropriate. The tools are available online at no cost and are aimed at researchers without specialist technical computer knowledge. The tools can be accessed at http://hvdr.bioinf.wits.ac.za/SmallGenomeTools, and the source code is available online at https://github.com/DrTrevorBell/SmallGenomeTools.