GigaScience最新文献

{"title":"A telomere-to-telomere gapless genome reveals SlPRR1 control of circadian rhythm and photoperiodic flowering in tomato.","authors":"Hui Liu, Jia-Qi Zhang, Jian-Ping Tao, Chen Chen, Li-Yao Su, Jin-Song Xiong, Ai-Sheng Xiong","doi":"10.1093/gigascience/giaf058","DOIUrl":"10.1093/gigascience/giaf058","url":null,"abstract":"<p><p>Cultivated tomato (Solanum lycopersicum) is a major vegetable crop of high economic value that serves as an important model for studying flowering time in day-neutral plants. A complete, continuous, and gapless genome of cultivated tomato is essential for genetic research and breeding programs. Here, we report the construction of a telomere-to-telomere (T2T) gap-free genome of S. lycopersicum cv. VF36 using a combination of sequencing technologies. The 815.27-Mb T2T \"VF36\" genome contained 600.23 Mb of transposable elements. Through comparative genomics and phylogenetic analysis, we identified structural variations between the \"VF36\" and \"Heinz 1706\" genomes and found no evidence of a recent species-specific whole-genome duplication in the \"VF36\" tomato. Furthermore, a core circadian oscillator, SlPRR1, was identified, which peaked at night in a circadian rhythm. CRISPR/Cas9-mediated knockdown of SlPRR1 in tomatoes demonstrated that slprr1 mutant lines exhibited significantly earlier flowering under long-day condition than wild type. We present a hypothetical model of how SlPRR1 regulates flowering time and chlorophyll biosynthesis in response to photoperiod. This T2T genomic resource will accelerate the genetic improvement of large-fruited tomatoes, and the SlPRR1-related hypothetical model will enhance our understanding of the photoperiodic response in cultivated tomatoes, revealing a regulatory mechanism for manipulating flowering time.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12218202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144553222","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}

{"title":"An ecosystem for producing and sharing metadata within the web of FAIR Data.","authors":"Daniel Jacob, François Ehrenmann, Romain David, Joseph Tran, Cathleen Mirande-Ney, Philippe Chaumeil","doi":"10.1093/gigascience/giae111","DOIUrl":"https://doi.org/10.1093/gigascience/giae111","url":null,"abstract":"<p><strong>Background: </strong>Descriptive metadata are vital for reporting, discovering, leveraging, and mobilizing research datasets. However, resolving metadata issues as part of a data management plan can be complex for data producers. To organize and document data, various descriptive metadata must be created. Furthermore, when sharing data, it is important to ensure metadata interoperability in line with FAIR (Findable, Accessible, Interoperable, Reusable) principles. Given the practical nature of these challenges, there is a need for management tools that can assist data managers effectively. Additionally, these tools should meet the needs of data producers and be user-friendly, requiring minimal training.</p><p><strong>Results: </strong>We developed Maggot (Metadata Aggregation on Data Storage), a web-based tool to locally manage a data catalog using high-level metadata. The main goal was to facilitate easy data dissemination and deposition in data repositories. With Maggot, users can easily generate and attach high-level metadata to datasets, allowing for seamless sharing in a collaborative environment. This approach aligns with many data management plans as it effectively addresses challenges related to data organization, documentation, storage, and the sharing of metadata based on FAIR principles within and beyond the collaborative group. Furthermore, Maggot enables metadata crosswalks (i.e., generated metadata can be converted to the schema used by a specific data repository or be exported using a format suitable for data collection by third-party applications).</p><p><strong>Conclusion: </strong>The primary purpose of Maggot is to streamline the collection of high-level metadata using carefully chosen schemas and standards. Additionally, it simplifies data accessibility via metadata, typically a requirement for publicly funded projects. As a result, Maggot can be utilized to promote effective local management with the goal of facilitating data sharing while adhering to the FAIR principles. Furthermore, it can contribute to the preparation of the future EOSC FAIR Web of Data within the European Open Science Cloud framework.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11707607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142947509","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}

{"title":"Guidance framework to apply best practices in ecological data analysis: lessons learned from building Galaxy-Ecology.","authors":"Coline Royaux, Jean-Baptiste Mihoub, Marie Jossé, Dominique Pelletier, Olivier Norvez, Yves Reecht, Anne Fouilloux, Helena Rasche, Saskia Hiltemann, Bérénice Batut, Eléaume Marc, Pauline Seguineau, Guillaume Massé, Alan Amossé, Claire Bissery, Romain Lorrilliere, Alexis Martin, Yves Bas, Thimothée Virgoulay, Valentin Chambon, Elie Arnaud, Elisa Michon, Clara Urfer, Eloïse Trigodet, Marie Delannoy, Gregoire Loïs, Romain Julliard, Björn Grüning, Yvan Le Bras","doi":"10.1093/gigascience/giae122","DOIUrl":"10.1093/gigascience/giae122","url":null,"abstract":"<p><p>Numerous conceptual frameworks exist for best practices in research data and analysis (e.g., Open Science and FAIR principles). In practice, there is a need for further progress to improve transparency, reproducibility, and confidence in ecology. Here, we propose a practical and operational framework for researchers and experts in ecology to achieve best practices for building analytical procedures from individual research projects to production-level analytical pipelines. We introduce the concept of atomization to identify analytical steps that support generalization by allowing us to go beyond single analyses. The term atomization is employed to convey the idea of single analytical steps as \"atoms\" composing an analytical procedure. When generalized, \"atoms\" can be used in more than a single case analysis. These guidelines were established during the development of the Galaxy-Ecology initiative, a web platform dedicated to data analysis in ecology. Galaxy-Ecology allows us to demonstrate a way to reach higher levels of reproducibility in ecological sciences by increasing the accessibility and reusability of analytical workflows once atomized and generalized.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11816794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143407005","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}

{"title":"A high-quality assembly revealing the PMEL gene for the unique plumage phenotype in Liancheng ducks.","authors":"Zhen Wang, Zhanbao Guo, Hongfei Liu, Tong Liu, Dapeng Liu, Simeng Yu, Hehe Tang, He Zhang, Qiming Mou, Bo Zhang, Junting Cao, Martine Schroyen, Shuisheng Hou, Zhengkui Zhou","doi":"10.1093/gigascience/giae114","DOIUrl":"10.1093/gigascience/giae114","url":null,"abstract":"<p><strong>Background: </strong>Plumage coloration is a distinctive trait in ducks, and the Liancheng duck, characterized by its white plumage and black beak and webbed feet, serves as an excellent subject for such studies. However, academic comprehension of the genetic mechanisms underlying duck plumage coloration remains limited. To this end, the Liancheng duck genome (GCA_039998735.1) was hereby de novo assembled using HiFi reads, and F2 segregating populations were generated from Liancheng and Pekin ducks. The aim was to identify the genetic mechanism of white plumage in Liancheng ducks.</p><p><strong>Results: </strong>In this study, 1.29 Gb Liancheng duck genome was de novo assembled, involving a contig N50 of 12.17 Mb and a scaffold N50 of 83.98 Mb. Beyond the epistatic effect of the MITF gene, genome-wide association study analysis pinpointed a 0.8-Mb genomic region encompassing the PMEL gene. This gene encoded a protein specific to pigment cells and was essential for the formation of fibrillar sheets within melanosomes, the organelles responsible for pigmentation. Additionally, linkage disequilibrium analysis revealed 2 candidate single-nucleotide polymorphisms (Chr33: 5,303,994A>G; 5,303,997A>G) that might alter PMEL transcription, potentially influencing plumage coloration in Liancheng ducks.</p><p><strong>Conclusions: </strong>Our study has assembled a high-quality genome for the Liancheng duck and has presented compelling evidence that the white plumage characteristic of this breed is attributable to the PMEL gene. Overall, these findings offer significant insights and direction for future studies and breeding programs aimed at understanding and manipulating avian plumage coloration.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11727711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142977794","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}

{"title":"NanoMnT: an STR analysis tool for Oxford Nanopore sequencing data driven by a comprehensive analysis of error profile in STR regions.","authors":"Gyumin Park, Hyunsu An, Han Luo, Jihwan Park","doi":"10.1093/gigascience/giaf013","DOIUrl":"10.1093/gigascience/giaf013","url":null,"abstract":"<p><p>Oxford Nanopore Technology (ONT) sequencing is a third-generation sequencing technology that enables cost-effective long-read sequencing, with broad applications in biological research. However, its high sequencing error rate in low-complexity regions hampers its applications in short tandem repeat (STR)-related research. To address this, we generated a comprehensive STR error profile of ONT by analyzing publicly available Nanopore sequencing datasets. We show that the sequencing error rate is influenced not only by STR length but also by the repeat unit and the flanking sequences of STR regions. Interestingly, certain flanking sequences were associated with higher sequencing accuracy, suggesting that certain STR loci are more suitable for Nanopore sequencing compared to other loci. While base quality scores of substitution errors within the STR regions were lower than those of correctly sequenced bases, such patterns were not observed for indel errors. Furthermore, choosing the most recent basecaller version and using the super accuracy model significantly improved STR sequencing accuracy. Finally, we present NanoMnT, a lightweight Python tool that corrects STR sequencing errors in sequencing data and estimates STR allele sizes. NanoMnT leverages the characteristics of ONT when estimating STR allele size and exhibits superior results for 1-bp- and 2-bp repeat STR compared to existing tools. By integrating our findings, we improved STR allele estimation accuracy for Ax10 repeats from 55% to 78% and up to 85% when excluding loci with unfavorable flanking sequences. Using NanoMnT, we present the utility of our findings by identifying microsatellite instability status in cancer sequencing data. NanoMnT is publicly available at https://github.com/18parkky/NanoMnT.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11912559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648038","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}

{"title":"Genomes reveal pervasive distant hybridization in nature among cyprinid fishes.","authors":"Li Ren, Xiaolong Tu, Mengxue Luo, Qizhi Liu, Jialin Cui, Xin Gao, Hong Zhang, Yakui Tai, Yiyan Zeng, Mengdan Li, Chang Wu, Wuhui Li, Jing Wang, Dongdong Wu, Shaojun Liu","doi":"10.1093/gigascience/giae117","DOIUrl":"10.1093/gigascience/giae117","url":null,"abstract":"<p><strong>Background: </strong>Genomic data have unveiled a fascinating aspect of the evolutionary past, showing that the mingling of different species through hybridization has left its mark on the histories of numerous life forms. However, the relationship between hybridization events and the origins of cyprinid fishes remains unclear.</p><p><strong>Results: </strong>In this study, we generated de novo assembled genomes of 8 cyprinid fishes and conducted phylogenetic analyses on 24 species. Widespread allele sharing across species boundaries was observed within 7 subfamilies of cyprinid fishes. Based on a systematic analysis of multiple tissues, we found that the testis exhibited a conserved pattern of divergence between the herbivorous Megalobrama amblycephala and the carnivorous Culter alburnus, suggesting a potential link to incomplete reproductive isolation. Significant differences in the expression of 4 genes (dpp2, ctrl, psb7, and ppce) in the liver and intestine, accompanied by variations in enzyme activities, indicated swift divergence in digestive enzyme secretion. Moreover, we identified introgressed genes linked to organ development in sympatric fishes with analogous feeding habits within the Cultrinae and Leuciscinae subfamilies.</p><p><strong>Conclusions: </strong>Our findings highlight the significant role played by incomplete reproductive isolation and frequent gene flow events, particularly those associated with the development of digestive organs, in driving speciation among cyprinid fishes in diverse freshwater ecosystems.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11779505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065175","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}

{"title":"Interspecific hybridization in Brassica species leads to changes in agronomic traits through the regulation of gene expression by chromatin accessibility and DNA methylation.","authors":"Chengtao Quan, Qin Zhang, Xiaoni Zhang, Kexin Chai, Guoting Cheng, Chaozhi Ma, Cheng Dai","doi":"10.1093/gigascience/giaf029","DOIUrl":"https://doi.org/10.1093/gigascience/giaf029","url":null,"abstract":"<p><p>Interspecific hybridization is a common method in plant breeding to combine traits from different species, resulting in allopolyploidization and significant genetic and epigenetic changes. However, our understanding of genome-wide chromatin and gene expression dynamics during allopolyploidization remains limited. This study generated two Brassica allotriploid hybrids via interspecific hybridization. We observed that accessible chromatin regions (ACRs) and DNA methylation interact to regulates gene expression after interspecific hybridization, ultimately influencing the agronomic traits of the hybrids. In total, 234,649 ACRs were identified in the parental lines and hybrids; the hybridization process induces changes in the distribution and abundance of their accessible chromatin regions, particularly in gene regions and their proximity. Genes associated with proximal ACRs were more highly expressed than those associated with distal and genic ACRs. More than half of novel ACRs drove transgressive gene expression in the hybrids, and the transgressive upregulated genes showed significant enrichment in metal ion binding, especially magnesium ion, calcium ion, and potassium ion binding. We also identified Bna.bZIP11 in the single-parent activation ACR, which binds to BnaA06.UF3GT to promote anthocyanin accumulation in F1 hybrids. DNA methylation plays a role in repressing gene expression, and unmethylated ACRs are more transcriptionally active. Additionally, the A-subgenome ACRs were associated with genome dosage rather than DNA methylation. The interplay among DNA methylation, transposable elements, and sRNA contributes to the dynamic landscape of ACRs during interspecific hybridization, resulting in distinct gene expression patterns on the genome.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12012897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143979240","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}

{"title":"Lifting the curse from high-dimensional data: automated projection pursuit clustering for a variety of biological data modalities.","authors":"Claire Simpson, Evgeniy Tabatsky, Zainab Rahil, Devon J Eddins, Sasha Tkachev, Florian Georgescauld, Derek Papalegis, Martin Culka, Tyler Levy, Ivan Gregoretti, Connor Meehan, Chiara Schiller, Kresimir Bestak, Denis Schapiro, Andrei Chernyshev, Guenther Walther, Eliver E B Ghosn, Darya Orlova","doi":"10.1093/gigascience/giaf052","DOIUrl":"10.1093/gigascience/giaf052","url":null,"abstract":"<p><p>Unsupervised clustering is a powerful machine-learning technique widely used to analyze high-dimensional biological data. It plays a crucial role in uncovering patterns, structures, and inherent relationships within complex datasets without relying on predefined labels. In the context of biology, high-dimensional data may include transcriptomics, proteomics, and a variety of single-cell omics data. Most existing clustering algorithms operate directly in the high-dimensional space, and their performance may be negatively affected by the phenomenon known as the curse of dimensionality. Here, we show an alternative clustering approach that alleviates the curse by sequentially projecting high-dimensional data into a low-dimensional representation. We validated the effectiveness of our approach, named automated projection pursuit (APP), across various biological data modalities, including flow and mass cytometry data, scRNA-seq, multiplex imaging data, and T-cell receptor repertoire data. APP efficiently recapitulated experimentally validated cell-type definitions and revealed new biologically meaningful patterns.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173575","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}

{"title":"A Case for estradiol: younger brains in women with earlier menarche and later menopause.","authors":"Eileen Luders, Inger Sundström Poromaa, Claudia Barth, Christian Gaser","doi":"10.1093/gigascience/giaf060","DOIUrl":"10.1093/gigascience/giaf060","url":null,"abstract":"<p><p>The transition to menopause is marked by a gradual decrease of estradiol. Concurrently, the risk of dementia in women increases around menopause, suggesting that estradiol (or the lack thereof) plays a role in the development of dementia and other age-related neuropathologies. Here, we set out to investigate whether there is a link between brain aging and estradiol-associated events, such as menarche and menopause. For this purpose, we applied a well-validated machine learning approach to analyze both cross-sectional and longitudinal data from a sample of 1,006 postmenopausal women who underwent structural magnetic resonance imaging twice, approximately 2 years apart. We observed less brain aging in women with an earlier menarche, a later menopause, and a longer reproductive span (i.e., the time interval between menarche and menopause). These effects were evident both cross-sectionally and longitudinally, supporting the notion that estradiol has neuroprotective properties and contributes to brain preservation. However, further research is required because the observed effects were small, estradiol was not directly measured, and other factors may modulate female brain health. Future studies might benefit from incorporating actual estradiol (and other hormone) measures, as well as considering genetic predispositions and lifestyle factors alongside indicators of brain aging to deepen our understanding of estradiol's role in maintaining brain health. Additionally, including more diverse study populations (e.g., varying in ethnicity, socioeconomic status, and health status) in follow-up research would enhance the generalizability and applicability of these findings.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12099614/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127148","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}

{"title":"A near telomere-to-telomere genome assembly of the Jinhua pig: enabling more accurate genetic research.","authors":"Caiyun Cao, Jian Miao, Qinqin Xie, Jiabao Sun, Hong Cheng, Zhenyang Zhang, Fen Wu, Shuang Liu, Xiaowei Ye, Huanfa Gong, Zhe Zhang, Qishan Wang, Yuchun Pan, Zhen Wang","doi":"10.1093/gigascience/giaf048","DOIUrl":"10.1093/gigascience/giaf048","url":null,"abstract":"<p><strong>Background: </strong>Pigs are crucial sources of meat and protein, valuable animal models, and potential donors for xenotransplantation. However, the existing reference genome for pigs is incomplete, with thousands of segments and centromeres and telomeres missing, which limits our understanding of the important traits in these genomic regions.</p><p><strong>Findings: </strong>We present a near-complete genome assembly for the Jinhua pig (JH-T2T) and provide a set of diploid Jinhua reference genomes, constructed using PacBio HiFi, ONT long reads, and Hi-C reads. This assembly includes all 18 autosomes and the X and Y sex chromosomes, with only 6 gaps. It features annotations of 46.90% repetitive sequences, 33 telomeres, 17 centromeres, and 23,924 high-confident genes. Compared to the Sscrofa11.1, JH-T2T closes nearly all gaps, extends sequences by 177 Mb, predicts more intact telomeres and centromeres, and gains 799 more genes and loses 114 genes. Moreover, it enhances the mapping rate for both Western and Chinese local pigs, outperforming Sscrofa11.1 as a reference genome. Additionally, this comprehensive genome assembly will facilitate large-scale variant detection.</p><p><strong>Conclusions: </strong>This study produced a near-gapless assembly of the pig genome and provides a set of haploid Jinhua reference genomes. Our findings represent a significant advance in pig genomics, providing a robust resource that enhances genetic research, breeding programs, and biomedical applications.</p>","PeriodicalId":12581,"journal":{"name":"GigaScience","volume":"14 ","pages":""},"PeriodicalIF":11.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144077470","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}