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Research: Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
- Kristine Bilgrav Saether,
- Angelo Salazar Mantero,
- Marlene Ek,
- Maria Pettersson,
- Elisabeth Syk Lundberg,
- Christopher M. Grochowski,
- Claudia M.B. Carvalho,
- Jesper Eisfeldt,
- and Anna Lindstrand
Genome Res. March 25, 2026 ; Published in Advance March 25, 2026, doi:10.1101/gr.281175.125
...), and threewere complex rearrangements involving either more than three BPJs (RD_P272, RD_P586) or more than one chromosome (RD_P328) (Table 2). In traditional cytogenetics, a simple sSMC is defined as a continuous DNA fragment of a chromosome that has lost its distal ends, whereas a discontinuous sSMC consists...
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Method: Strain-level metagenomic profiling using pangenome graphs with PanTax
- Wenhai Zhang,
- Yuansheng Liu,
- Guangyi Li,
- Jialu Xu,
- Enlian Chen,
- Alexander Schönhuth,
- and Xiao Luo
Genome Res. February 2026 36: 405-420; Published in Advance January 14, 2026, doi:10.1101/gr.280858.125
..., the classification can be biased if the marker genes in the microbial sequences of interest do not follow a uniform distribution (D’Amore et al. 2016). The second are DNA-to-protein methods, where DIAMOND (Buchfink et al. 2015), Kaiju (Menzel et al. 2016), and MMseqs2 (Steinegger and Söding 2017) are prominent...
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Erratum: Erratum: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA
- Cristian Groza,
- Bing Ge,
- Warren A. Cheung,
- Tomi Pastinen,
- and Guillaume Bourque
Genome Res. March 2026 36: 660; doi:10.1101/gr.281963.126
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Resource: A systems view on DNA damage response kinetics in Tetrahymena
- Emily Nischwitz,
- Vivien A.C. Schoonenberg,
- Rachel Mullner,
- Albert Fradera-Sola,
- Susanne Zimbelmann,
- Joshua J. Smith,
- and Falk Butter
Genome Res. January 28, 2026 ; Published in Advance January 28, 2026, doi:10.1101/gr.281000.125
...et al. 2016). Tetrahymena possesses a unique nuclear architecture containing a transcriptionally active macronucleus (MAC), and a transcriptionally silent micronucleus (MIC). During sexual reproduction, the new MAC chromosomes undergo ∼200 regulated double-stranded DNA breaks and endoreplication...
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Research: Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA
- Cristian Groza,
- Bing Ge,
- Warren A. Cheung,
- Tomi Pastinen,
- and Guillaume Bourque
Genome Res. April 2025 35: 644-652; Published in Advance March 20, 2025, doi:10.1101/gr.279240.124
.... Nucleic Acids Res 47: e117. doi:10.1093/nar/gkz674 ↵Yue X, Xie Z, Li M, Wang K, Li X, Zhang X, Yan J, Yin Y. 2022. Simultaneous profiling of histone modifications and DNA methylation via nanopore sequencing. Nat Commun 13: 7939. doi:10.1038/s41467-022-35650-2 ↵Ziller MJ, Gu H, Müller F, Donaghey J, Tsai...
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Method: Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling
- Li-Ting Chen,
- Myrthe Jager,
- Dàmi Rebergen,
- Geertruid J. Brink,
- Tom van den Ende,
- Willem Vanderlinden,
- Pauline Kolbeck,
- Marc Pagès-Gallego,
- Ymke van der Pol,
- Nicolle Besselink,
- Norbert Moldovan,
- Nizar Hami,
- Wigard P. Kloosterman,
- Hanneke van Laarhoven,
- Florent Mouliere,
- Ronald Zweemer,
- Jan Lipfert,
- Sarah Derks,
- Alessio Marcozzi,
- and Jeroen de Ridder
Genome Res. April 2025 35: 886-899; Published in Advance January 13, 2025, doi:10.1101/gr.279144.124
...BX, United Kingdom Corresponding authors: alessio.marcozzi@gmail.com, j.deridder-4@umcutrecht.nlAbstractShallow -wide cell-free DNA sequencing holds great promise for noninvasive cancer monitoring by providing reliable copy number alteration (CNA) and fragmentomic profiles. Single...
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Research: Mitotic chromosomes harbor cell type– and species-specific structural features within a universal loop array conformation
- Marlies E. Oomen,
- A. Nicole Fox,
- Inma Gonzalez,
- Amandine Molliex,
- Thaleia Papadopoulou,
- Pablo Navarro,
- and Job Dekker
Genome Res. August 2025 35: 1733-1744; Published in Advance June 6, 2025, doi:10.1101/gr.280648.125
...phosphorylation that abolishes their DNA binding capacity (Dovat et al. 2002; Dephoure et al. 2008; Rizkallah and Hurt 2009). Indeed, previous observations showed CTCF is phosphorylated during mitosis (Sekiya et al. 2017). We note that, although the different cell lines in this study warrant different...
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Resource: Single-nucleus multiomic profiling of the aging mouse substantia nigra reveals conserved gene alterations linked to Parkinson's disease
- Kangli Wang,
- Weikun Xia,
- Yingli Gu,
- Songpeng Zu,
- Qian Yang,
- Maria Luisa Amaral,
- Yaozhi Wang,
- Allen Wang,
- Xiang-Dong Fu,
- William C. Mobley,
- and Bing Ren
Genome Res. March 4, 2026 ; Published in Advance March 4, 2026, doi:10.1101/gr.281113.125
...Single-nucleus multiomic profiling of the aging mouse substantia nigra reveals conserved gene alterations linked to Parkinson’s disease Kangli Wang,1 Weikun Xia,1 Yingli Gu,1 Songpeng Zu,1 Qian Yang,2 Maria Luisa Amaral,1 Yaozhi Wang,1 Allen Wang,2 Xiang-Dong Fu,3 William C. Mobley,4 and Bing Ren1...
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Method: k-mer cross-species profiling reveals taxon-specific TE expansions accompanied by KZFP co-option and functional impacts in ruminants
- Pengju Zhao,
- Jiayi He,
- Chen Peng,
- Yuelang Zhang,
- Chong Wang,
- Dongyou Yu,
- Lingzhao Fang,
- and Zhengguang Wang
Genome Res. March 23, 2026 gr.281289.125; Published in Advance March 23, 2026, doi:10.1101/gr.281289.125
...-mers 555 in that clustering. 556 TE-KZFP interactions analysis 557 To comprehensively identify DNA-binding sites, we employed an integrated approach 558 combining database mining and de novo motif prediction. For established motif references, 559 we retrieved 25 experimentally unvalidated TFBS profiles...
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Mini-Review: Evolution of genome-wide methylation profiling technologies
- Carolina Montano and
- Winston Timp
Genome Res. April 2025 35: 572-582; doi:10.1101/gr.278407.123
..., Pennsylvania 19104, USA Corresponding authors: montanoc@chop.edu, wtimp@jhu.eduAbstractIn this mini-review, we explore the advancements in -wide DNA methylation profiling, tracing the evolution from traditional methods such as methylation arrays and whole- bisulfite sequencing to the cutting-edge single...
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