GigaSciencePub Date : 2024-04-22DOI: 10.1093/gigascience/giae018
Hengchuang Yin, Shufang Wu, Jie Tan, Qian Guo, Mo Li, Jinyuan Guo, Yaqi Wang, Xiaoqing Jiang, Huaiqiu Zhu
{"title":"IPEV: identification of prokaryotic and eukaryotic virus-derived sequences in virome using deep learning","authors":"Hengchuang Yin, Shufang Wu, Jie Tan, Qian Guo, Mo Li, Jinyuan Guo, Yaqi Wang, Xiaoqing Jiang, Huaiqiu Zhu","doi":"10.1093/gigascience/giae018","DOIUrl":"https://doi.org/10.1093/gigascience/giae018","url":null,"abstract":"Background The virome obtained through virus-like particle enrichment contains a mixture of prokaryotic and eukaryotic virus-derived fragments. Accurate identification and classification of these elements are crucial to understanding their roles and functions in microbial communities. However, the rapid mutation rates of viral genomes pose challenges in developing high-performance tools for classification, potentially limiting downstream analyses. Findings We present IPEV, a novel method to distinguish prokaryotic and eukaryotic viruses in viromes, with a 2-dimensional convolutional neural network combining trinucleotide pair relative distance and frequency. Cross-validation assessments of IPEV demonstrate its state-of-the-art precision, significantly improving the F1-score by approximately 22% on an independent test set compared to existing methods when query viruses share less than 30% sequence similarity with known viruses. Furthermore, IPEV outperforms other methods in accuracy on marine and gut virome samples based on annotations by sequence alignments. IPEV reduces runtime by at most 1,225 times compared to existing methods under the same computing configuration. We also utilized IPEV to analyze longitudinal samples and found that the gut virome exhibits a higher degree of temporal stability than previously observed in persistent personal viromes, providing novel insights into the resilience of the gut virome in individuals. Conclusions IPEV is a high-performance, user-friendly tool that assists biologists in identifying and classifying prokaryotic and eukaryotic viruses within viromes. The tool is available at https://github.com/basehc/IPEV.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140804753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-04-22DOI: 10.1093/gigascience/giae017
Yiyan Yang, Keith Dufault-Thompson, Wei Yan, Tian Cai, Lei Xie, Xiaofang Jiang
{"title":"Large-scale genomic survey with deep learning-based method reveals strain-level phage specificity determinants","authors":"Yiyan Yang, Keith Dufault-Thompson, Wei Yan, Tian Cai, Lei Xie, Xiaofang Jiang","doi":"10.1093/gigascience/giae017","DOIUrl":"https://doi.org/10.1093/gigascience/giae017","url":null,"abstract":"Background Phage therapy, reemerging as a promising approach to counter antimicrobial-resistant infections, relies on a comprehensive understanding of the specificity of individual phages. Yet the significant diversity within phage populations presents a considerable challenge. Currently, there is a notable lack of tools designed for large-scale characterization of phage receptor-binding proteins, which are crucial in determining the phage host range. Results In this study, we present SpikeHunter, a deep learning method based on the ESM-2 protein language model. With SpikeHunter, we identified 231,965 diverse phage-encoded tailspike proteins, a crucial determinant of phage specificity that targets bacterial polysaccharide receptors, across 787,566 bacterial genomes from 5 virulent, antibiotic-resistant pathogens. Notably, 86.60% (143,200) of these proteins exhibited strong associations with specific bacterial polysaccharides. We discovered that phages with identical tailspike proteins can infect different bacterial species with similar polysaccharide receptors, underscoring the pivotal role of tailspike proteins in determining host range. The specificity is mainly attributed to the protein’s C-terminal domain, which strictly correlates with host specificity during domain swapping in tailspike proteins. Importantly, our dataset-driven predictions of phage–host specificity closely match the phage–host pairs observed in real-world phage therapy cases we studied. Conclusions Our research provides a rich resource, including both the method and a database derived from a large-scale genomics survey. This substantially enhances understanding of phage specificity determinants at the strain level and offers a valuable framework for guiding phage selection in therapeutic applications.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140804820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An effective strategy for assembling the sex-limited chromosome","authors":"Xiao-Bo Wang, Hong-Wei Lu, Qing-You Liu, A-Lun Li, Hong-Ling Zhou, Yong Zhang, Tian-Qi Zhu, Jue Ruan","doi":"10.1093/gigascience/giae015","DOIUrl":"https://doi.org/10.1093/gigascience/giae015","url":null,"abstract":"Background Most currently available reference genomes lack the sequence map of sex-limited (such as Y and W) chromosomes, which results in incomplete assemblies that hinder further research on sex chromosomes. Recent advancements in long-read sequencing and population sequencing have provided the opportunity to assemble sex-limited chromosomes without the traditional complicated experimental efforts. Findings We introduce the first computational method, Sorting long Reads of Y or other sex-limited chromosome (SRY), which achieves improved assembly results compared to flow sorting. Specifically, SRY outperforms in the heterochromatic region and demonstrates comparable performance in other regions. Furthermore, SRY enhances the capabilities of the hybrid assembly software, resulting in improved continuity and accuracy. Conclusions Our method enables true complete genome assembly and facilitates downstream research of sex-limited chromosomes.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140613961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-04-16DOI: 10.1093/gigascience/giae019
Hamid Beiki, Brenda M Murdoch, Carissa A Park, Chandlar Kern, Denise Kontechy, Gabrielle Becker, Gonzalo Rincon, Honglin Jiang, Huaijun Zhou, Jacob Thorne, James E Koltes, Jennifer J Michal, Kimberly Davenport, Monique Rijnkels, Pablo J Ross, Rui Hu, Sarah Corum, Stephanie McKay, Timothy P L Smith, Wansheng Liu, Wenzhi Ma, Xiaohui Zhang, Xiaoqing Xu, Xuelei Han, Zhihua Jiang, Zhi-Liang Hu, James M Reecy
{"title":"Enhanced bovine genome annotation through integration of transcriptomics and epi-transcriptomics datasets facilitates genomic biology","authors":"Hamid Beiki, Brenda M Murdoch, Carissa A Park, Chandlar Kern, Denise Kontechy, Gabrielle Becker, Gonzalo Rincon, Honglin Jiang, Huaijun Zhou, Jacob Thorne, James E Koltes, Jennifer J Michal, Kimberly Davenport, Monique Rijnkels, Pablo J Ross, Rui Hu, Sarah Corum, Stephanie McKay, Timothy P L Smith, Wansheng Liu, Wenzhi Ma, Xiaohui Zhang, Xiaoqing Xu, Xuelei Han, Zhihua Jiang, Zhi-Liang Hu, James M Reecy","doi":"10.1093/gigascience/giae019","DOIUrl":"https://doi.org/10.1093/gigascience/giae019","url":null,"abstract":"Background The accurate identification of the functional elements in the bovine genome is a fundamental requirement for high-quality analysis of data informing both genome biology and genomic selection. Functional annotation of the bovine genome was performed to identify a more complete catalog of transcript isoforms across bovine tissues. Results A total of 160,820 unique transcripts (50% protein coding) representing 34,882 unique genes (60% protein coding) were identified across tissues. Among them, 118,563 transcripts (73% of the total) were structurally validated by independent datasets (PacBio isoform sequencing data, Oxford Nanopore Technologies sequencing data, de novo assembled transcripts from RNA sequencing data) and comparison with Ensembl and NCBI gene sets. In addition, all transcripts were supported by extensive data from different technologies such as whole transcriptome termini site sequencing, RNA Annotation and Mapping of Promoters for the Analysis of Gene Expression, chromatin immunoprecipitation sequencing, and assay for transposase-accessible chromatin using sequencing. A large proportion of identified transcripts (69%) were unannotated, of which 86% were produced by annotated genes and 14% by unannotated genes. A median of two 5′ untranslated regions were expressed per gene. Around 50% of protein-coding genes in each tissue were bifunctional and transcribed both coding and noncoding isoforms. Furthermore, we identified 3,744 genes that functioned as noncoding genes in fetal tissues but as protein-coding genes in adult tissues. Our new bovine genome annotation extended more than 11,000 annotated gene borders compared to Ensembl or NCBI annotations. The resulting bovine transcriptome was integrated with publicly available quantitative trait loci data to study tissue–tissue interconnection involved in different traits and construct the first bovine trait similarity network. Conclusions These validated results show significant improvement over current bovine genome annotations.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140614176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-04-16DOI: 10.1093/gigascience/giae014
Sungwon Jeon, Hansol Choi, Yeonsu Jeon, Whan-Hyuk Choi, Hyunjoo Choi, Kyungwhan An, Hyojung Ryu, Jihun Bhak, Hyeonjae Lee, Yoonsung Kwon, Sukyeon Ha, Yeo Jin Kim, Asta Blazyte, Changjae Kim, Yeonkyung Kim, Younghui Kang, Yeong Ju Woo, Chanyoung Lee, Jeongwoo Seo, Changhan Yoon, Dan Bolser, Orsolya Biro, Eun-Seok Shin, Byung Chul Kim, Seon-Young Kim, Ji-Hwan Park, Jongbum Jeon, Dooyoung Jung, Semin Lee, Jong Bhak
{"title":"Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups","authors":"Sungwon Jeon, Hansol Choi, Yeonsu Jeon, Whan-Hyuk Choi, Hyunjoo Choi, Kyungwhan An, Hyojung Ryu, Jihun Bhak, Hyeonjae Lee, Yoonsung Kwon, Sukyeon Ha, Yeo Jin Kim, Asta Blazyte, Changjae Kim, Yeonkyung Kim, Younghui Kang, Yeong Ju Woo, Chanyoung Lee, Jeongwoo Seo, Changhan Yoon, Dan Bolser, Orsolya Biro, Eun-Seok Shin, Byung Chul Kim, Seon-Young Kim, Ji-Hwan Park, Jongbum Jeon, Dooyoung Jung, Semin Lee, Jong Bhak","doi":"10.1093/gigascience/giae014","DOIUrl":"https://doi.org/10.1093/gigascience/giae014","url":null,"abstract":"Background Phenome-wide association studies (PheWASs) have been conducted on Asian populations, including Koreans, but many were based on chip or exome genotyping data. Such studies have limitations regarding whole genome–wide association analysis, making it crucial to have genome-to-phenome association information with the largest possible whole genome and matched phenome data to conduct further population-genome studies and develop health care services based on population genomics. Results Here, we present 4,157 whole genome sequences (Korea4K) coupled with 107 health check-up parameters as the largest genomic resource of the Korean Genome Project. It encompasses most of the variants with allele frequency >0.001 in Koreans, indicating that it sufficiently covered most of the common and rare genetic variants with commonly measured phenotypes for Koreans. Korea4K provides 45,537,252 variants, and half of them were not present in Korea1K (1,094 samples). We also identified 1,356 new genotype–phenotype associations that were not found by the Korea1K dataset. Phenomics analyses further revealed 24 significant genetic correlations, 14 pleiotropic associations, and 127 causal relationships based on Mendelian randomization among 37 traits. In addition, the Korea4K imputation reference panel, the largest Korean variants reference to date, showed a superior imputation performance to Korea1K across all allele frequency categories. Conclusions Collectively, Korea4K provides not only the largest Korean genome data but also corresponding health check-up parameters and novel genome–phenome associations. The large-scale pathological whole genome–wide omics data will become a powerful set for genome–phenome level association studies to discover causal markers for the prediction and diagnosis of health conditions in future studies.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140614276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-04-04DOI: 10.1093/gigascience/giae011
Mariano Ruz Jurado, Lukas S Tombor, Mani Arsalan, Tomas Holubec, Fabian Emrich, Thomas Walther, Wesley Abplanalp, Ariane Fischer, Andreas M Zeiher, Marcel H Schulz, Stefanie Dimmeler, David John
{"title":"Improved integration of single-cell transcriptome data demonstrates common and unique signatures of heart failure in mice and humans","authors":"Mariano Ruz Jurado, Lukas S Tombor, Mani Arsalan, Tomas Holubec, Fabian Emrich, Thomas Walther, Wesley Abplanalp, Ariane Fischer, Andreas M Zeiher, Marcel H Schulz, Stefanie Dimmeler, David John","doi":"10.1093/gigascience/giae011","DOIUrl":"https://doi.org/10.1093/gigascience/giae011","url":null,"abstract":"Background Cardiovascular research heavily relies on mouse (Mus musculus) models to study disease mechanisms and to test novel biomarkers and medications. Yet, applying these results to patients remains a major challenge and often results in noneffective drugs. Therefore, it is an open challenge of translational science to develop models with high similarities and predictive value. This requires a comparison of disease models in mice with diseased tissue derived from humans. Results To compare the transcriptional signatures at single-cell resolution, we implemented an integration pipeline called OrthoIntegrate, which uniquely assigns orthologs and therewith merges single-cell RNA sequencing (scRNA-seq) RNA of different species. The pipeline has been designed to be as easy to use and is fully integrable in the standard Seurat workflow. We applied OrthoIntegrate on scRNA-seq from cardiac tissue of heart failure patients with reduced ejection fraction (HFrEF) and scRNA-seq from the mice after chronic infarction, which is a commonly used mouse model to mimic HFrEF. We discovered shared and distinct regulatory pathways between human HFrEF patients and the corresponding mouse model. Overall, 54% of genes were commonly regulated, including major changes in cardiomyocyte energy metabolism. However, several regulatory pathways (e.g., angiogenesis) were specifically regulated in humans. Conclusions The demonstration of unique pathways occurring in humans indicates limitations on the comparability between mice models and human HFrEF and shows that results from the mice model should be validated carefully. OrthoIntegrate is publicly accessible (https://github.com/MarianoRuzJurado/OrthoIntegrate) and can be used to integrate other large datasets to provide a general comparison of models with patient data.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140599512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-04-04DOI: 10.1093/gigascience/giae010
Michael B Hall, Lachlan J M Coin
{"title":"Pangenome databases improve host removal and mycobacteria classification from clinical metagenomic data","authors":"Michael B Hall, Lachlan J M Coin","doi":"10.1093/gigascience/giae010","DOIUrl":"https://doi.org/10.1093/gigascience/giae010","url":null,"abstract":"Background Culture-free real-time sequencing of clinical metagenomic samples promises both rapid pathogen detection and antimicrobial resistance profiling. However, this approach introduces the risk of patient DNA leakage. To mitigate this risk, we need near-comprehensive removal of human DNA sequences at the point of sequencing, typically involving the use of resource-constrained devices. Existing benchmarks have largely focused on the use of standardized databases and largely ignored the computational requirements of depletion pipelines as well as the impact of human genome diversity. Results We benchmarked host removal pipelines on simulated and artificial real Illumina and Nanopore metagenomic samples. We found that construction of a custom kraken database containing diverse human genomes results in the best balance of accuracy and computational resource usage. In addition, we benchmarked pipelines using kraken and minimap2 for taxonomic classification of Mycobacterium reads using standard and custom databases. With a database representative of the Mycobacterium genus, both tools obtained improved specificity and sensitivity, compared to the standard databases for classification of Mycobacterium tuberculosis. Computational efficiency of these custom databases was superior to most standard approaches, allowing them to be executed on a laptop device. Conclusions Customized pangenome databases provide the best balance of accuracy and computational efficiency when compared to standard databases for the task of human read removal and M. tuberculosis read classification from metagenomic samples. Such databases allow for execution on a laptop, without sacrificing accuracy, an especially important consideration in low-resource settings. We make all customized databases and pipelines freely available.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140599486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-10DOI: 10.1093/gigascience/giad115
Anna Niehues, Casper de Visser, Fiona A Hagenbeek, Purva Kulkarni, René Pool, Naama Karu, Alida S D Kindt, Gurnoor Singh, Robert R J M Vermeiren, Dorret I Boomsma, Jenny van Dongen, Peter A C ’t Hoen, Alain J van Gool
{"title":"A multi-omics data analysis workflow packaged as a FAIR Digital Object","authors":"Anna Niehues, Casper de Visser, Fiona A Hagenbeek, Purva Kulkarni, René Pool, Naama Karu, Alida S D Kindt, Gurnoor Singh, Robert R J M Vermeiren, Dorret I Boomsma, Jenny van Dongen, Peter A C ’t Hoen, Alain J van Gool","doi":"10.1093/gigascience/giad115","DOIUrl":"https://doi.org/10.1093/gigascience/giad115","url":null,"abstract":"Background Applying good data management and FAIR (Findable, Accessible, Interoperable, and Reusable) data principles in research projects can help disentangle knowledge discovery, study result reproducibility, and data reuse in future studies. Based on the concepts of the original FAIR principles for research data, FAIR principles for research software were recently proposed. FAIR Digital Objects enable discovery and reuse of Research Objects, including computational workflows for both humans and machines. Practical examples can help promote the adoption of FAIR practices for computational workflows in the research community. We developed a multi-omics data analysis workflow implementing FAIR practices to share it as a FAIR Digital Object. Findings We conducted a case study investigating shared patterns between multi-omics data and childhood externalizing behavior. The analysis workflow was implemented as a modular pipeline in the workflow manager Nextflow, including containers with software dependencies. We adhered to software development practices like version control, documentation, and licensing. Finally, the workflow was described with rich semantic metadata, packaged as a Research Object Crate, and shared via WorkflowHub. Conclusions Along with the packaged multi-omics data analysis workflow, we share our experiences adopting various FAIR practices and creating a FAIR Digital Object. We hope our experiences can help other researchers who develop omics data analysis workflows to turn FAIR principles into practice.","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":9.2,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139463300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae002
Carla L Archibald, David M Summers, Erin M Graham, Brett A Bryan
{"title":"Habitat suitability maps for Australian flora and fauna under CMIP6 climate scenarios.","authors":"Carla L Archibald, David M Summers, Erin M Graham, Brett A Bryan","doi":"10.1093/gigascience/giae002","DOIUrl":"10.1093/gigascience/giae002","url":null,"abstract":"<p><strong>Background: </strong>Spatial information about the location and suitability of areas for native plant and animal species under different climate futures is an important input to land use and conservation planning and management. Australia, renowned for its abundant species diversity and endemism, often relies on modeled data to assess species distributions due to the country's vast size and the challenges associated with conducting on-ground surveys on such a large scale. The objective of this article is to develop habitat suitability maps for Australian flora and fauna under different climate futures.</p><p><strong>Results: </strong>Using MaxEnt, we produced Australia-wide habitat suitability maps under RCP2.6-SSP1, RCP4.5-SSP2, RCP7.0-SSP3, and RCP8.5-SSP5 climate futures for 1,382 terrestrial vertebrates and 9,251 vascular plants vascular plants at 5 km2 for open access. This represents 60% of all Australian mammal species, 77% of amphibian species, 50% of reptile species, 71% of bird species, and 44% of vascular plant species. We also include tabular data, which include summaries of total quality-weighted habitat area of species under different climate scenarios and time periods.</p><p><strong>Conclusions: </strong>The spatial data supplied can help identify important and sensitive locations for species under various climate futures. Additionally, the supplied tabular data can provide insights into the impacts of climate change on biodiversity in Australia. These habitat suitability maps can be used as input data for landscape and conservation planning or species management, particularly under different climate change scenarios in Australia.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":11.8,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
GigaSciencePub Date : 2024-01-02DOI: 10.1093/gigascience/giae024
Justin Chu, Jiazhen Rong, Xiaowen Feng, Heng Li
{"title":"ntsm: an alignment-free, ultra-low-coverage, sequencing technology agnostic, intraspecies sample comparison tool for sample swap detection.","authors":"Justin Chu, Jiazhen Rong, Xiaowen Feng, Heng Li","doi":"10.1093/gigascience/giae024","DOIUrl":"10.1093/gigascience/giae024","url":null,"abstract":"<p><strong>Background: </strong>Due to human error, sample swapping in large cohort studies with heterogeneous data types (e.g., mix of Oxford Nanopore Technologies, Pacific Bioscience, Illumina data, etc.) remains a common issue plaguing large-scale studies. At present, all sample swapping detection methods require costly and unnecessary (e.g., if data are only used for genome assembly) alignment, positional sorting, and indexing of the data in order to compare similarly. As studies include more samples and new sequencing data types, robust quality control tools will become increasingly important.</p><p><strong>Findings: </strong>The similarity between samples can be determined using indexed k-mer sequence variants. To increase statistical power, we use coverage information on variant sites, calculating similarity using a likelihood ratio-based test. Per sample error rate, and coverage bias (i.e., missing sites) can also be estimated with this information, which can be used to determine if a spatially indexed principal component analysis (PCA)-based prescreening method can be used, which can greatly speed up analysis by preventing exhaustive all-to-all comparisons.</p><p><strong>Conclusions: </strong>Because this tool processes raw data, is faster than alignment, and can be used on very low-coverage data, it can save an immense degree of computational resources in standard quality control (QC) pipelines. It is robust enough to be used on different sequencing data types, important in studies that leverage the strengths of different sequencing technologies. In addition to its primary use case of sample swap detection, this method also provides information useful in QC, such as error rate and coverage bias, as well as population-level PCA ancestry analysis visualization.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":null,"pages":null},"PeriodicalIF":11.8,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141237337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}