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scExtract: leveraging large language models for fully automated single-cell RNA-seq data annotation and prior-informed multi-dataset integration scExtract:利用大型语言模型进行全自动单细胞RNA-seq数据注释和预先通知的多数据集集成
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-19 DOI: 10.1186/s13059-025-03639-x
Yuxuan Wu, Fuchou Tang
{"title":"scExtract: leveraging large language models for fully automated single-cell RNA-seq data annotation and prior-informed multi-dataset integration","authors":"Yuxuan Wu, Fuchou Tang","doi":"10.1186/s13059-025-03639-x","DOIUrl":"https://doi.org/10.1186/s13059-025-03639-x","url":null,"abstract":"Single-cell RNA sequencing has revolutionized cellular heterogeneity research, but analyzing the abundance of unannotated public datasets remains challenging. We present scExtract, a framework leveraging large language models to automate scRNA-seq data analysis from preprocessing to annotation and integration. scExtract extracts information from research articles to guide data processing, outperforming existing reference transfer methods in benchmarks. We introduce scanorama-prior and cellhint-prior, which incorporate prior annotation information for improved batch correction while preserving biological diversities. We demonstrate scExtract’s utility by integrating 14 datasets to create a comprehensive human skin atlas of 440,000 cells. ","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"40 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144320226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intragenomic conflict associated with extreme phenotypic plasticity in queen-worker caste determination in honey bees (Apis mellifera) 蜂后工蜂等级决定中与极端表型可塑性相关的基因组内冲突
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-18 DOI: 10.1186/s13059-025-03628-0
Sean T. Bresnahan, Shaun Mahony, Kate Anton, Brock Harpur, Christina M. Grozinger
{"title":"Intragenomic conflict associated with extreme phenotypic plasticity in queen-worker caste determination in honey bees (Apis mellifera)","authors":"Sean T. Bresnahan, Shaun Mahony, Kate Anton, Brock Harpur, Christina M. Grozinger","doi":"10.1186/s13059-025-03628-0","DOIUrl":"https://doi.org/10.1186/s13059-025-03628-0","url":null,"abstract":"Caste determination of honey bees (Apis mellifera) exemplifies developmental plasticity, where differences in larval diet result in identical genotypes yielding either long-lived, reproductive queens or short-lived, facultatively sterile workers. Beyond environmental factors, intragenomic conflict between genes inherited from the mother (matrigenes) versus the father (patrigenes) is hypothesized to influence the underlying traits. In honey bees, the Kinship Theory of Intragenomic Conflict predicts selection on patrigenes to favor traits enhancing individual fitness, such as accelerated growth or increased body size—traits more active in queen-destined larvae. Although parent-of-origin effects have been reported in honey bees, the associated gene regulatory mechanisms remain unknown. While DNA methylation underlies parent-biased transcription in eutherians, angiosperms, and some insects, it is not operating in honey bees or other social insects. Allele-specific transcriptome analyses on queen- and worker-destined larvae at 192 h post-fertilization (hpf) reveal hundreds of genes with parent-of-origin effects, with queen-destined larvae showing overrepresentation of patrigene-biased transcription relative to worker-destined larvae. Genes with parent-biased transcription resemble imprinted genes in other taxa regarding genomic clustering, recombination rate, intron length, and CpG density, with a subset showing parent-biased transcription in 24 hpf eggs. Allele-specific ChIP-seq analyses demonstrate that parent-of-origin effects on caste-specific profiles of H3K27me3, H3K4me3, and H3K27ac are associated with parent-of-origin transcription. These findings suggest that parent-of-origin intragenomic conflict may influence phenotypic plasticity and may be associated with histone post-translational modifications, suggesting a “noncanonical” genomic imprinting-like system in social insects.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"14 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
k-mer-based GWAS in a wheat collection reveals novel and diverse sources of powdery mildew resistance 基于k-mer的小麦GWAS揭示了新的和多样化的白粉病抗性来源
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-18 DOI: 10.1186/s13059-025-03645-z
Benjamin Jaegle, Yoav Voichek, Max Haupt, Alexandros G. Sotiropoulos, Kevin Gauthier, Matthias Heuberger, Esther Jung, Gerhard Herren, Victoria Widrig, Rebecca Leber, Yipu Li, Beate Schierscher, Sarah Serex, Maja Boczkowska, Marta-Puchta Jasińska, Paulina Bolc, Boulos Chalhoub, Nils Stein, Beat Keller, Javier Sánchez-Martín
{"title":"k-mer-based GWAS in a wheat collection reveals novel and diverse sources of powdery mildew resistance","authors":"Benjamin Jaegle, Yoav Voichek, Max Haupt, Alexandros G. Sotiropoulos, Kevin Gauthier, Matthias Heuberger, Esther Jung, Gerhard Herren, Victoria Widrig, Rebecca Leber, Yipu Li, Beate Schierscher, Sarah Serex, Maja Boczkowska, Marta-Puchta Jasińska, Paulina Bolc, Boulos Chalhoub, Nils Stein, Beat Keller, Javier Sánchez-Martín","doi":"10.1186/s13059-025-03645-z","DOIUrl":"https://doi.org/10.1186/s13059-025-03645-z","url":null,"abstract":"Wheat genetic resources hold the diversity required to mitigate agricultural challenges from climate change and reduced inputs. Using DArTseq, we genotype 461 wheat landraces and cultivars and evaluate them for powdery mildew resistance. By developing a k-mer-based GWAS approach with fully assembled genomes of Triticum aestivum and its progenitors, we uncover 25% more resistance-associated k-mers than single-reference methods, outperforming SNP-based GWAS in both loci detection and mapping precision. In total, we detect 34 powdery mildew resistance loci, including 27 potentially novel regions. Our approach underscores the importance of integrating multiple reference genomes to unlock the potential of wheat germplasm.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"25 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144312178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vispro improves imaging analysis for Visium spatial transcriptomics Vispro改进了Visium空间转录组学的成像分析
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-18 DOI: 10.1186/s13059-025-03648-w
Huifang Ma, Xingyuan Zhang, Yilong Qu, Anru R. Zhang, Zhicheng Ji
{"title":"Vispro improves imaging analysis for Visium spatial transcriptomics","authors":"Huifang Ma, Xingyuan Zhang, Yilong Qu, Anru R. Zhang, Zhicheng Ji","doi":"10.1186/s13059-025-03648-w","DOIUrl":"https://doi.org/10.1186/s13059-025-03648-w","url":null,"abstract":"Spatial transcriptomics enables spatially resolved gene expression analysis, but accompanying histology images are often degraded by fiducial markers and background regions, hindering interpretation. To address this, we introduce Vispro, an end-to-end automated image processing tool optimized for 10× Visium data. Vispro includes modules for fiducial marker detection, image restoration, tissue region detection, and segmentation of disconnected tissue areas. By enhancing image quality, Vispro improves the accuracy and performance of downstream analyses, including tissue and cell segmentation, image registration, gene expression imputation guided by histological context, and spatial domain detection.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"12 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
KPop: accurate and scalable comparative analysis of microbial genomes by sequence embeddings KPop:通过序列嵌入精确和可扩展的微生物基因组比较分析
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-18 DOI: 10.1186/s13059-025-03585-8
Xavier Didelot, Paolo Ribeca
{"title":"KPop: accurate and scalable comparative analysis of microbial genomes by sequence embeddings","authors":"Xavier Didelot, Paolo Ribeca","doi":"10.1186/s13059-025-03585-8","DOIUrl":"https://doi.org/10.1186/s13059-025-03585-8","url":null,"abstract":"Here we introduce KPop, a novel versatile method based on full k-mer spectra and dataset-specific transformations, through which thousands of assembled or unassembled microbial genomes can be quickly compared. Unlike MinHash-based methods that produce distances and have lower resolution, KPop is able to accurately map sequences onto a low-dimensional space. Extensive validation on simulated and real-life viral and bacterial datasets shows that KPop can correctly separate sequences at both species and sub-species levels even when the overall genomic diversity is low. KPop also rapidly identifies related sequences and systematically outperforms MinHash-based methods.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"232 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144311725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mumemto: efficient maximal matching across pangenomes Mumemto:跨泛基因组的高效最大匹配
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-17 DOI: 10.1186/s13059-025-03644-0
Vikram S. Shivakumar, Ben Langmead
{"title":"Mumemto: efficient maximal matching across pangenomes","authors":"Vikram S. Shivakumar, Ben Langmead","doi":"10.1186/s13059-025-03644-0","DOIUrl":"https://doi.org/10.1186/s13059-025-03644-0","url":null,"abstract":"Aligning genomes into common coordinates is central to pangenome construction, though computationally expensive. Multi-sequence maximal unique matches (multi-MUMs) help to frame and solve the multiple alignment problem. We introduce Mumemto, a tool that computes multi-MUMs and other match types across large pangenomes. Mumemto allows for visualization of synteny, reveals aberrant assemblies and scaffolds, and highlights pangenome conservation and structural variation. Mumemto computes multi-MUMs across 320 human assemblies (960GB) in 25.7 h with 800 GB of memory and hundreds of fungal assemblies in minutes. Mumemto is implemented in C++ and Python and available open-source at https://github.com/vikshiv/mumemto (v1.1.1 at doi.org/10.5281/zenodo.15053447 ).","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"22 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Abundant and metabolically flexible bacterial lineages underlie a vast potential for rubisco-mediated carbon fixation in the dark ocean 丰富且代谢灵活的细菌谱系为深海中rubisco介导的碳固定提供了巨大的潜力
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-16 DOI: 10.1186/s13059-025-03625-3
Alexander L. Jaffe, Rebecca S. R. Salcedo, Anne E. Dekas
{"title":"Abundant and metabolically flexible bacterial lineages underlie a vast potential for rubisco-mediated carbon fixation in the dark ocean","authors":"Alexander L. Jaffe, Rebecca S. R. Salcedo, Anne E. Dekas","doi":"10.1186/s13059-025-03625-3","DOIUrl":"https://doi.org/10.1186/s13059-025-03625-3","url":null,"abstract":"Rubisco is among the most abundant enzymes on Earth and is a critical conduit for inorganic carbon into the biosphere. Despite this, the full extent of rubisco diversity and the biology of organisms that employ it for carbon fixation are still emerging, particularly in unlit ecosystems like the deep sea. We generate fifteen metagenomes along a spatially resolved transect off the California coast and combine them with globally distributed public data to examine the diversity, distribution, and metabolic features of rubisco-encoding organisms from the dark water column. Organisms with the form I and/or form II rubisco are detected in the vast majority of all samples and comprise up to around 20% of the binned microbial community. At 150 m and below, the potential for autotrophic carbon fixation via rubisco is dominated by just two orders of gammaproteobacteria and SAR324, encoding either the form I or II rubisco. Many of these organisms also possess genes for the oxidation of reduced sulfur compounds, which may energetically support carbon fixation. Transcriptomic profiling in the epi- and mesopelagic suggests that all major forms of rubisco (I, II, and III) can be highly expressed in the deep water column but are not done so constitutively, consistent with metabolic flexibility. Our results demonstrate that the genetic potential to fix carbon via rubisco is significant and spatially widespread in the dark ocean. We identify several rubisco-encoding species that are particularly abundant and cosmopolitan, highlighting the key role they may play in deep-sea chemoautotrophy and the global marine carbon cycle.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"22 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144296293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A survey of computational approaches for characterizing microbial interactions in microbial mats 描述微生物垫中微生物相互作用的计算方法综述
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-16 DOI: 10.1186/s13059-025-03634-2
Vanesa L. Perillo, Michael Nute, Nicolae Sapoval, Kristen D. Curry, Logan Golia, Yongze Yin, Huw A. Ogilvie, Luay Nakhleh, Santiago Segarra, Devaki Bhaya, Diana G. Cuadrado, Todd J. Treangen
{"title":"A survey of computational approaches for characterizing microbial interactions in microbial mats","authors":"Vanesa L. Perillo, Michael Nute, Nicolae Sapoval, Kristen D. Curry, Logan Golia, Yongze Yin, Huw A. Ogilvie, Luay Nakhleh, Santiago Segarra, Devaki Bhaya, Diana G. Cuadrado, Todd J. Treangen","doi":"10.1186/s13059-025-03634-2","DOIUrl":"https://doi.org/10.1186/s13059-025-03634-2","url":null,"abstract":"In this review, we use microbial mat communities as a general model system to highlight the strengths and limitations of current computational methods for analyzing interactions between members of microbial ecosystems. We describe the factors that make this environment have such a high degree of interaction, and we explore different categories of both laboratory and computational tools for studying these interactions. For each tool, we describe efforts to apply them to microbial mats in the past and, in the process, argue that genome-scale metabolic models have breakthrough potential for modeling microbial interactions in microbial mats.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"222 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144296292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cancer gene identification from RNA variant allelic frequencies using RVdriver 利用RVdriver从RNA变异等位基因频率中鉴定癌症基因
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-13 DOI: 10.1186/s13059-025-03557-y
James R. M. Black, Thomas P. Jones, Carlos Martínez-Ruiz, Maria Litovchenko, Clare Puttick, Charles Swanton, Nicholas McGranahan
{"title":"Cancer gene identification from RNA variant allelic frequencies using RVdriver","authors":"James R. M. Black, Thomas P. Jones, Carlos Martínez-Ruiz, Maria Litovchenko, Clare Puttick, Charles Swanton, Nicholas McGranahan","doi":"10.1186/s13059-025-03557-y","DOIUrl":"https://doi.org/10.1186/s13059-025-03557-y","url":null,"abstract":"Existing approaches to identifying cancer genes rely overwhelmingly on DNA sequencing data. Here, we introduce RVdriver, a computational tool that leverages paired bulk genomic and transcriptomic data to classify RNA variant allele frequencies (VAFs) of non-synonymous mutations relative to a synonymous mutation background. We analyze 7882 paired exomes and transcriptomes from 31 cancer types and identify novel, as well as known, cancer genes, complementing other DNA-based approaches. Furthermore, RNA VAFs of individual mutations are able to distinguish “driver” from “passenger” mutations within established cancer genes. This approach highlights the value of multi-omic approaches for cancer gene discovery.","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"22 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144278663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
cuteFC: regenotyping structural variants through an accurate and efficient force-calling method cuteFC:通过准确高效的力调用方法对结构变异进行基因分型
IF 12.3 1区 生物学
Genome Biology Pub Date : 2025-06-13 DOI: 10.1186/s13059-025-03642-2
Tao Jiang, Shuqi Cao, Yadong Liu, Zhendong Zhang, Bo Liu, Ruibang Luo, Guohua Wang, Yadong Wang
{"title":"cuteFC: regenotyping structural variants through an accurate and efficient force-calling method","authors":"Tao Jiang, Shuqi Cao, Yadong Liu, Zhendong Zhang, Bo Liu, Ruibang Luo, Guohua Wang, Yadong Wang","doi":"10.1186/s13059-025-03642-2","DOIUrl":"https://doi.org/10.1186/s13059-025-03642-2","url":null,"abstract":"Long-read sequencing technologies have great potential for the comprehensive discovery of structural variations (SVs). However, accurate genotype assignment for SVs remains challenging due to unavoidable sequencing errors, limited coverage, and the complexity of SVs. Herein, we propose cuteFC, which employs self-adaptive clustering along with a multiallele-aware clustering to achieve accurate SV regenotyping through a force-calling approach. cuteFC also applies a Genome Position Scanner algorithm to improve its application efficiency. Benchmarking evaluations demonstrate that cuteFC outperforms state-of-the-art methods with 2–5% higher F1 scores and constructs a higher-quality genomic atlas with minimal computational resources. cuteFC is available at https://github.com/Meltpinkg/cuteFC and https://zenodo.org/records/14671406 .","PeriodicalId":12611,"journal":{"name":"Genome Biology","volume":"91 1","pages":""},"PeriodicalIF":12.3,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144278659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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