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Research: Loss of multilevel 3D genome organization during breast cancer progression
- Roberto Rossini,
- Saleh Oshaghi,
- Maxim Nekrasov,
- Aurélie Bellanger,
- Renae Domaschenz,
- Yasmin Dijkwel,
- Mohamed Abdelhalim,
- Rahul Agrawal,
- Marit Ledsaak,
- Philippe Collas,
- Ragnhild Eskeland,
- David Tremethick,
- and Jonas Paulsen
Genome Res. January 2026 36: 20-37; Published in Advance October 9, 2025, doi:10.1101/gr.280791.125
...Medicine, Oslo University Hospital, 0424 Oslo, Norway Corresponding authors: david.tremethick@anu.edu.au, jonas.paulsen@ibv.uio.noAbstractBreast cancer entails intricate alterations in organization and expression. However, how three-dimensional (3D) chromatin structure changes in the progression from...
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Research: Polycomb misregulation in enterocytes drives tissue decline in the aging Drosophila intestine
- Sarah M. Leichter,
- Kami Ahmad,
- and Steven Henikoff
Genome Res. January 2026 36: 102-114; Published in Advance November 17, 2025, doi:10.1101/gr.281058.125
...levels at histone loci (Fig. 5B,C). Notably, 15-day-old tissues correspond to the peak of gut maturation, after which age-related decline begins (Capo et al. 2019). This establishes S-phase-dependent histone gene upregulation as a transcriptional signature of advanced aging in this tissue.View larger...
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Research: Alternative splicing generates HER2 isoform diversity underlying antibody–drug conjugate resistance in breast cancer
- Gabriela D.A. Guardia,
- Carlos H. dos Anjos,
- Aline Rangel-Pozzo,
- Filipe F. dos Santos,
- Alexander Birbrair,
- Paula F. Asprino,
- Anamaria A. Camargo,
- and Pedro A.F. Galante
Genome Res. September 2025 35: 1942-1958; Published in Advance July 15, 2025, doi:10.1101/gr.280304.124
...al. 2008; Uhlén et al. 2015; Reixachs-Solé and Eyras 2022). In the context of cancer, aberrant splicing has been implicated in various aspects of tumor biology, including drug resistance (Sveen et al. 2016; Marcelino Meliso et al. 2017; Dvinge et al. 2019).In breast cancer, alternative splicing...
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Research: Comprehensive functional annotation of ESR1-driven enhancers in breast cancer reveals hierarchical activity independent of genomic and epigenomic contexts
- Yanis Zekri,
- Sebastian Gregoricchio,
- Elif Yapıcı,
- Chia-Chi Flora Huang,
- Tunç Morova,
- Umut Berkay Altıntaş,
- Gozde Korkmaz,
- Nathan A. Lack,
- and Wilbert Zwart
Genome Res. July 2025 35: 1530-1543; Published in Advance June 10, 2025, doi:10.1101/gr.280320.124
...with distinct copy number variations (CNVs) (Kumaran et al. 2017; Wilcox et al. 2023). Using CopywriteR (Kuilman et al. 2015), which infers DNA copy from off-target sequencing reads, we reanalyzed ESR1 ChIP-seq data sets from normal breast tissue, primary tumors, liver metastases, and breast recurrences from...
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Method: Nanopore sequencing identifies high-frequency somatic structural variations in laryngeal squamous cell carcinoma genomes
- Xuyan Liu,
- Lin Xia,
- Yixin Qiao,
- Yang Li,
- Yan Huang,
- Bingyan Yue,
- Xi Liang,
- Xin Yang,
- Honghui Zhang,
- Jiaxun Zhang,
- Xiao Chen,
- Dan Xie,
- and Jifeng Liu
Genome Res. April 8, 2026 gr.281046.125; Published in Advance April 8, 2026, doi:10.1101/gr.281046.125
...the local 497 three-dimensional chromatin architecture. 498 Discussion 499 500 Somatic structural variations (SVs) are critical hallmarks of tumorigenesis (Cosenza et al. 501 2022). However, technical limitations of SRS in sensitively detecting somatic SVs, 502 compounded by the tissue heterogeneity...
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Method: Aggregation of recount3 RNA-seq data improves inference of consensus and tissue-specific gene coexpression networks
- Prashanthi Ravichandran,
- Princy Parsana,
- Rebecca Keener,
- Kasper D. Hansen,
- and Alexis Battle
Genome Res. September 2025 35: 2087-2103; Published in Advance July 17, 2025, doi:10.1101/gr.280808.125
..., central nervous system, breast, skin, and lung (Fig. 1C). SRA included 224 distinct tissue labels derived from manual annotation that was not observed in GTEx or TCGA and reflected a wide range of disease states, including Type I diabetes, Alzheimer's disease, bipolar disorder, arthritis, cancer...
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Research: Single-cell analysis reveals transcriptional dynamics in healthy primary parathyroid tissue
- Aarthi Venkat,
- Maximillian J. Carlino,
- Betty R. Lawton,
- Manju L. Prasad,
- Matthew Amodio,
- Courtney E. Gibson,
- Caroline J. Zeiss,
- Scott E. Youlten,
- Smita Krishnaswamy,
- and Diane S. Krause
Genome Res. June 2024 34: 837-850; Published in Advance July 8, 2024, doi:10.1101/gr.278215.123
...(Bingham et al. 2009; Lawton et al. 2020), such studies have been hampered by a lack of data regarding the gene expression signature(s) and heterogeneity of epithelial cells in normal PT tissue. The adult human PT contains two apparent functional cell types: oxyphil and chief cells. Both types secrete PTH...
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Research: Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis
- Tianfu Zeng,
- Haotian Liao,
- Lin Xia,
- Siyao You,
- Yanqun Huang,
- Jiaxun Zhang,
- Yahui Liu,
- Xuyan Liu,
- and Dan Xie
Genome Res. April 2025 35: 671-685; Published in Advance March 4, 2025, doi:10.1101/gr.279617.124
...↵3 These authors equally contributed to this work. Corresponding author: danxie@scu.edu.cnAbstractSomatic structural variations (SVs) represent a critical category of genomic mutations in hepatocellular carcinoma (HCC). However, the accurate identification of somatic SVs using short-read high...
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Method: Deep structural clustering reveals hidden systematic biases in RNA sequencing data
- Qiang Su,
- Yi Long,
- Deming Gou,
- Junmin Quan,
- Xiaoming Zhou,
- and Qizhou Lian
Genome Res. November 2025 35: 2563-2577; Published in Advance September 19, 2025, doi:10.1101/gr.280713.125
...-dimensional RNA structures on local sequencing efficiency using an innovative unsupervised variational autoencoder-Gaussian mixture model (VAE-GMM). The VAE-GMM effectively captures intricate high-dimensional k-mer structural similarities by learning compact latent representations, which reduces dimensionality...
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Method: Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
- Tanner D. Jensen,
- Bohan Ni,
- Chloe M. Reuter,
- John E. Gorzynski,
- Sarah Fazal,
- Devon Bonner,
- Rachel A. Ungar,
- Pagé C. Goddard,
- Archana Raja,
- Euan A. Ashley,
- Jonathan A. Bernstein,
- Stephan Zuchner,
- Undiagnosed Diseases Network,
- Michael D. Greicius,
- Stephen B. Montgomery,
- Michael C. Schatz,
- Matthew T. Wheeler,
- and Alexis Battle
Genome Res. April 2025 35: 914-928; Published in Advance March 20, 2025, doi:10.1101/gr.279323.124
.... Corresponding authors: smontgom@stanford.edu, mschatz@cs.jhu.edu, wheelerm@stanford.edu, ajbattle@jhu.eduAbstractRare structural variants (SVs)—insertions, deletions, and complex rearrangements—can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed...
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