Genome research最新文献_第6页

k-mer-based Upstream Preprocessing of long reads for Isoform Discovery. 基于k-mer的长读段上游预处理的异构体发现。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-14 DOI: 10.1101/gr.282250.126

Molly Borowiak, Yun William Yu

引用次数: 0

Genome-wide survey of spliceosomal snRNA transcripts across hundreds of human biosamples reveals abundant transcription but low maturation level of snRNA variants. 对数百个人类生物样本剪接体snRNA转录物的全基因组调查显示，snRNA变体转录丰富，但成熟水平低。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-04 DOI: 10.1101/gr.282371.126

Xiao-Ou Zhang, Ya Zhang, Zhiping Weng

{"title":"Genome-wide survey of spliceosomal snRNA transcripts across hundreds of human biosamples reveals abundant transcription but low maturation level of snRNA variants.","authors":"Xiao-Ou Zhang, Ya Zhang, Zhiping Weng","doi":"10.1101/gr.282371.126","DOIUrl":"https://doi.org/10.1101/gr.282371.126","url":null,"abstract":"Small nuclear RNAs (snRNAs) are essential components of the spliceosome and are encoded by large, multicopy gene families. However, their genome-wide identification and quantification have remained challenging due to high sequence similarity among family members. To address this, we utilized RAMPAGE (Rapid Amplification of cDNA Ends) data from the ENCODE project to comprehensively profile nascent transcription of spliceosomal snRNAs across 115 human biosamples. We identified 74 expressed snRNA variants, characterized by canonical promoter features including bidirectional transcription flanking a positioned nucleosome, active histone modifications, and evolutionary conservation- features largely absent from unexpressed variants. These transcriptional events were corroborated by total RNA-seq and Bru-seq data, yet the majority of these variants showed extremely low levels in small RNA-seq, indicating post-transcriptional bottlenecks for snRNA processing and maturation. Our findings reveal new layers of regulation in snRNA variant expression and suggest that selective post-transcriptional processing plays a critical role in shaping the functional snRNA repertoire and its contribution to splicing regulation.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":""},"PeriodicalIF":6.3,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148891475","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}

引用次数: 0

A sequence-based classifier distinguishes phenotype-associated genes from other gene models in plants. 基于序列的分类器区分植物中表型相关基因与其他基因模型。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281802.125

Nikee Shrestha, Zhongjie Ji, Xiuru Dai, Pinghua Li, James C Schnable

{"title":"A sequence-based classifier distinguishes phenotype-associated genes from other gene models in plants.","authors":"Nikee Shrestha, Zhongjie Ji, Xiuru Dai, Pinghua Li, James C Schnable","doi":"10.1101/gr.281802.125","DOIUrl":"10.1101/gr.281802.125","url":null,"abstract":"Only a small fraction of annotated plant genes possess experimentally validated associations with specific phenotypes. Phenotype-associated genes have distinct structural, molecular, and evolutionary characteristics compared with nonvalidated gene models. Here, we develop a simple classifier that uses sequence and evolutionary features, which can be generated for any species with an annotated reference genome assembly, to accurately distinguish phenotype-associated genes from both the overall population of annotated gene models and a specific set of genes identified as being tolerant of premature stop mutations. A model trained solely on genes from maize (Zea mays) identifies and prioritizes rice (Oryza sativa) and Arabidopsis (Arabidopsis thaliana) genes that are highly enriched in genes with experimentally validated links to phenotypes in both of these evolutionarily distant species. Gene models predicted to have a higher probability of being linked to phenotypes display patterns consistent with known biological properties of phenotype-associated genes. Notably, the sets of genes predicted to have a high probability of being linked to phenotype variation do not consist exclusively of well-characterized gene families but included many uncharacterized gene families carrying domains of unknown function. The quantitative scores generated by this model offer a valuable resource for prioritizing and exploring the vast number of uncharacterized gene models in plants, reducing the risk of failure in future reverse genetic efforts and potentially accelerating gene discovery and functional annotation in crops.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1863-1872"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13533879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148445793","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}

引用次数: 0

Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development. 跨物种变异-功能分析暗示MEIS1与睡眠异常和小脑发育受损有关。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281655.125

Amber J Zimmerman, Erika Almeraya Del Valle, Matthew C Pahl, Fusun Doldur-Balli, Brendan T Keenan, Patrick Z Liu, Zoe Y Shetty, Trisha R Tsundupalli, Justin Palermo, Anitra Krishnan, James A Pippin, Andrew D Wells, Olivia J Veatch, Alessandra Chesi, Philip R Gehrman, Alex C Keene, Allan I Pack, Struan F A Grant

{"title":"Cross-species variant-to-function analyses implicate MEIS1 in conferring sleep abnormalities and impaired cerebellar development.","authors":"Amber J Zimmerman, Erika Almeraya Del Valle, Matthew C Pahl, Fusun Doldur-Balli, Brendan T Keenan, Patrick Z Liu, Zoe Y Shetty, Trisha R Tsundupalli, Justin Palermo, Anitra Krishnan, James A Pippin, Andrew D Wells, Olivia J Veatch, Alessandra Chesi, Philip R Gehrman, Alex C Keene, Allan I Pack, Struan F A Grant","doi":"10.1101/gr.281655.125","DOIUrl":"10.1101/gr.281655.125","url":null,"abstract":"Genome-wide association studies (GWAS) have identified numerous loci for insomnia, yet functional validation of effector genes remains limited because most risk variants lie in noncoding regions, and the true causal gene is not known. Here, we use prior human cell-based variant-to-gene mapping to nominate six insomnia effector genes and test them in zebrafish, a tractable diurnal vertebrate model well suited for sleep phenotyping. Our CRISPR-based behavioral screening identifies the MEIS1 ortholog, meis1b, as a regulator of sleep maintenance, with crispants displaying impaired nighttime-specific sleep maintenance and increased sleep latency. Comparative chromatin analyses reveal conserved regulatory architecture spanning the human insomnia-associated locus and selectively implicate meis1b, whereas the duplicated ohnolog meis1a was dispensable. Developmental profiling further shows that meis1b is expressed in cerebellar granule progenitors, paralleling human MEIS1 expression, and that its disruption impairs cerebellar development. Together, these findings establish zebrafish as an efficient vertebrate platform for functional interrogation of GWAS candidates and support an evolutionarily conserved cerebellar role for MEIS1 in sleep maintenance.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1785-1799"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148630118","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}

引用次数: 0

A SNP panel for coanalysis of capture and shotgun ancient DNA data. 用于捕获和猎枪古代DNA数据共同分析的SNP面板。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281262.125

Romain Fournier, Alice Pearson Fulton, Daniel Tabin, David Reich

{"title":"A SNP panel for coanalysis of capture and shotgun ancient DNA data.","authors":"Romain Fournier, Alice Pearson Fulton, Daniel Tabin, David Reich","doi":"10.1101/gr.281262.125","DOIUrl":"10.1101/gr.281262.125","url":null,"abstract":"Advances in technology have decreased the cost of generating genetic data from ancient people, resulting in exponentially increasing numbers of individuals with whole-genome data. However, these technologies come with platform-specific biases, limiting coanalyzability of individuals sequenced with different technologies as well as joint analysis of modern and ancient individuals. Here, we present a method to identify single-nucleotide polymorphisms (SNPs) with minimal technology-specific bias. Leveraging data from more than 18,000 individuals, we apply this method to identify a set of around 1 million SNPs that we call the \"compatibility\" panel, which has been effectively assayed in a large fraction of ancient human DNA experiments published to date. We also identify a subset of these SNPs, the \"compatibility-HO\" panel, which are restricted to positions that have been assayed in more than 10,000 modern people from more than 1000 diverse populations using the Affymetrix Human Origins (HO) genotyping array. The compatibility panel reduces spurious Z-scores owing to differing sequencing platforms by nearly an order of magnitude, while retaining ∼60%-85% of statistical power for f-statistic analysis. We also provide a tool for users to select different tradeoffs between bias and power as well as sequencing platforms for their specific analyses.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1818-1824"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148725083","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}

引用次数: 0

Pattern-Filter structural validation of single-cell RNA-seq reads reduces artifactual barcodes and improves biological resolution. 单细胞RNA-seq reads的Pattern-Filter结构验证减少了人工条形码，提高了生物分辨率。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281717.125

Qiang Su, Xiaoming Zhou, Yi Long, Fuyu Duan, Qizhou Lian

{"title":"Pattern-Filter structural validation of single-cell RNA-seq reads reduces artifactual barcodes and improves biological resolution.","authors":"Qiang Su, Xiaoming Zhou, Yi Long, Fuyu Duan, Qizhou Lian","doi":"10.1101/gr.281717.125","DOIUrl":"10.1101/gr.281717.125","url":null,"abstract":"Single-cell RNA sequencing (scRNA-seq) pipelines rely on the assumption that sequencing reads possess correct structural architecture, a premise we show is incomplete. Standard quantification tools treat errors exclusively as base mismatches, failing to identify structural aberrations arising from off-target priming or nonspecific amplification. We demonstrate that these pervasive artifacts, reads lacking essential anchor motifs like poly(T) tracts, linkers, or template-switching oligos, generate large numbers of spurious barcodes, artificially inflate cell counts, and substantially affect biological interpretation. To resolve this, we developed Pattern-Filter, a universal preprocessing tool that systematically validates read integrity before alignment. It functions by detecting platform-specific anchor sequences and applying strict base-composition filtering to ensure barcodes and UMIs contain only canonical nucleotides. When applied across diverse platforms, including 10x Genomics, Drop-seq, BD Rhapsody, and SPLiT-seq, Pattern-Filter systematically removes 2%-18% of total reads yet reduces spurious barcode diversity by up to 80%. This asymmetric reduction confirms that a small fraction of invalid reads drives the majority of technical noise, compromising cluster stability. Consequently, this targeted removal enhances data reproducibility and recovers biologically relevant cell types, such as dopaminergic neurons in mouse striatum, which were previously obscured by artifact-induced noise. These findings establish structural validation as an essential prerequisite for analysis, positioning Pattern-Filter as a useful standard for ensuring molecular fidelity and reliable biological discovery in single-cell transcriptomics.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1873-1888"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148721709","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}

引用次数: 0

Long-read sequencing reveals widespread novel splicing and neojunction-derived neoantigens in nasopharyngeal carcinoma. 长读测序揭示了鼻咽癌中广泛存在的新型剪接和新连接衍生的新抗原。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281467.125

Yi Shuai, Hualiang Yao, Bo Wang, Grace T Y Chung, Xiangeng Wang, Ming Zhong, Zhongxu Zhu, Cheuk Shuen Li, Chi Man Tsang, Kwok-Wai Lo, Xin Wang

{"title":"Long-read sequencing reveals widespread novel splicing and neojunction-derived neoantigens in nasopharyngeal carcinoma.","authors":"Yi Shuai, Hualiang Yao, Bo Wang, Grace T Y Chung, Xiangeng Wang, Ming Zhong, Zhongxu Zhu, Cheuk Shuen Li, Chi Man Tsang, Kwok-Wai Lo, Xin Wang","doi":"10.1101/gr.281467.125","DOIUrl":"10.1101/gr.281467.125","url":null,"abstract":"The widespread transcriptomic diversity driven by alternative splicing (AS) contributes to all hallmarks of cancer and represents a critical source of neoantigens for personalized immunotherapy. However, unlike other major malignancies, the full repertoire of AS in nasopharyngeal carcinoma (NPC) remains underexplored. Here, we employ long-read sequencing (LR-seq) to generate a high-resolution, isoform-level transcriptomic atlas from a cohort of 14 NPC tumor samples and four immortalized nasopharyngeal epithelial cell lines. We identify a substantial number of full-length novel transcripts (22,687; ∼44.38%), which reveal diverse splicing patterns and previously unannotated splicing events. By integrating short-read RNA-seq data to quantify isoform expression, we discover a subset of novel transcripts that are differentially expressed between tumor samples and immortalized nasopharyngeal epithelial cell lines. Furthermore, LR-seq enables precise identification of chimeric readthrough fusion transcripts, such as CLDN15-FIS1 and FOXRED2-TXN2 Finally, we develop a computational framework, tumor-specific splicing neoantigen detection (TS-SNAD), to predict neoantigens originating from novel exon-exon junctions (neojunctions) in tumor-specific novel transcripts. Using this framework, we identify neojunction-derived neoantigens and experimentally validate the immunogenicity of selected HLA-B*40:01-restricted neoantigens. These neojunction-derived peptides constitute a new class of noncanonical neoantigens with significant potential for developing personalized cancer vaccines for NPC.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"36 9","pages":"1754-1770"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873886","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}

引用次数: 0

A pangenome framework uncovers the role of deletions in repeated evolution of cave-derived traits. 泛基因组框架揭示了缺失在洞穴衍生特征重复进化中的作用。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281719.125

Emma Y Roback, Maggs X, Edward S Ricemeyer, Adam Warlen, Rachel A Carroll, Christine G Elsik, Alex C Keene, Nicolas Rohner, Suzanne E McGaugh, Wesley C Warren

{"title":"A pangenome framework uncovers the role of deletions in repeated evolution of cave-derived traits.","authors":"Emma Y Roback, Maggs X, Edward S Ricemeyer, Adam Warlen, Rachel A Carroll, Christine G Elsik, Alex C Keene, Nicolas Rohner, Suzanne E McGaugh, Wesley C Warren","doi":"10.1101/gr.281719.125","DOIUrl":"10.1101/gr.281719.125","url":null,"abstract":"Structural variants (SVs) are increasingly recognized as key contributors to adaptive evolution, yet they remain underexplored compared with single-nucleotide variation. To understand how large-scale genomic changes shape repeated evolution, we leveraged multiple levels of sequence data across the powerful evolutionary model system of the Mexican tetra fish (Astyanax mexicanus). We constructed one of the first pangenome graphs from a naturally evolving vertebrate, enabling comprehensive discovery of SVs among 120 fish from 11 populations. We discover substantial amounts of structural variation and explore the roles of genomic biases and selection in shaping the distribution of these variants. More than 2400 high-confidence cave-specific deletions are enriched in biological pathways involved in vision, metabolism, and behavior and cluster nonrandomly in quantitative trait loci linked to cavefish traits. Additionally, 67 genes harbor unique deletions between independent cavefish lineages. These reused genes show evidence of population-specific selection (99% contain selective sweeps compared with 8%-15% in genes lacking SVs), indicating that deletions likely rose in frequency through repeated positive selection rather than drift. Together, these results reveal that recurrent deletion events have repeatedly contributed to the evolution of cave-adapted phenotypes and highlight deletions as underexplored contributors of adaptive evolution in extreme environments.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1921-1939"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534238/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760755","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}

引用次数: 0

Dietary effects on cytosolic and mitochondrial tRNA abundance and modification patterns across mouse tissues. 饮食对小鼠细胞质和线粒体tRNA丰度和修饰模式的影响。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281159.125

Simeiyun Liu, Andrew D Holmes, Ruoxia Zhao, Cassandra Herbert, Patrick A Limbach, Todd M Lowe, Upasna Sharma

{"title":"Dietary effects on cytosolic and mitochondrial tRNA abundance and modification patterns across mouse tissues.","authors":"Simeiyun Liu, Andrew D Holmes, Ruoxia Zhao, Cassandra Herbert, Patrick A Limbach, Todd M Lowe, Upasna Sharma","doi":"10.1101/gr.281159.125","DOIUrl":"10.1101/gr.281159.125","url":null,"abstract":"Transfer RNAs (tRNAs) are central to protein synthesis and are increasingly recognized as dynamic regulators of gene expression whose abundance and chemical modifications are subject to precise biological control. Here, we systematically investigate how two distinct dietary interventions, low-protein and high-fat diets, reshape the tRNA landscape across multiple mouse tissues, using RNA mass spectrometry and ordered two-template relay sequencing (OTTR-seq) to comprehensively profile cytosolic and mitochondrial tRNAs at single-nucleotide resolution. We reveal pronounced tissue-specific biases in tRNA isodecoder expression, including the unexpected presence of full-length cytosolic tRNAs in mature sperm with a distinct isotype composition. In somatic tissues such as liver and heart, dietary conditions alter both tRNA abundance and key modifications known to regulate decoding efficiency, whereas in reproductive tissues diet primarily affects the abundance of select tRNAs with comparatively limited changes in modification profiles. We further demonstrate that mitochondrial tRNAs are subject to diet-responsive changes in both abundance and modification status and that even subtle differences in dietary fat composition are sufficient to alter tRNA modification signatures. Together, these findings establish the tRNA epitranscriptome as a sensitive and tissue-specific sensor of nutritional state and provide a resource for understanding how dietary cues interface with translational regulation in somatic and reproductive tissues.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"36 9","pages":"1902-1920"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873866","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}

引用次数: 0

The impact of sex, age, and genetic ancestry on DNA methylation across tissues. 性别、年龄和遗传祖先对组织中DNA甲基化的影响。

IF 6.3 2区生物学

Genome research Pub Date : 2026-09-01 DOI: 10.1101/gr.281428.125

Winona Oliveros, Jose Miguel Ramirez, Maria Sopena-Rios, Pau Clavell-Revelles, Marta Melé

{"title":"The impact of sex, age, and genetic ancestry on DNA methylation across tissues.","authors":"Winona Oliveros, Jose Miguel Ramirez, Maria Sopena-Rios, Pau Clavell-Revelles, Marta Melé","doi":"10.1101/gr.281428.125","DOIUrl":"10.1101/gr.281428.125","url":null,"abstract":"Understanding the consequences of individual DNA methylation variation is crucial for advancing our knowledge of human biology and disease, yet the collective impact of individual traits on DNA methylation and their downstream effects on gene expression across human tissues remains poorly understood. Here, we quantify the contributions of sex, age, genetic ancestry, and BMI on autosomal DNA methylation variation across nine human tissues and 424 individuals from the Genotype-Tissue Expression project. We show that genetic ancestry and age have a greater impact on DNA methylation compared with sex, with aging effects being more widespread but less pronounced. On average, <10% of the gene expression variation in sex, age, and ancestry is mediated by DNA methylation differences, with ancestry showing the largest proportion of mediation. We further show that ancestry-associated DNA methylation differences accumulate at CpG sites with extreme methylation states and are largely under genetic control. The female autosomal genome exhibits consistent hypermethylation across tissues at Polycomb-repressed regions. Ultimately, we show that age-related Polycomb target hypermethylation is observed across multiple tissues but not in the gonads. Our multi-individual, multitissue approach defines the key drivers of human DNA methylation variation in healthy conditions, establishing a baseline for the interpretation of DNA methylation changes in disease contexts.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":" ","pages":"1725-1741"},"PeriodicalIF":6.3,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148445768","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}

引用次数: 0