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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. April 2026 36: 661-670; Published in Advance March 25, 2026, doi:10.1101/gr.281175.125
...resolution, as well as to identify their chromosomal origin and formation mechanism. Here, we apply long-read sequencing (lrGS) in combination with the telomere-to-telomere (T2T-CHM13) assembly to characterize the structure and genomic content of 10 clinically detected sSMCs. We use sequencing data...
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Method: Highly efficient and scarless genome editing via essential gene-coupled homology-directed repair
- Joo Hye Yeo,
- Hyongbum Henry Kim,
- Sang Ho Oh,
- and Jinu Lee
Genome Res. April 15, 2026 gr.281194.125; Published in Advance April 15, 2026, doi:10.1101/gr.281194.125
...Highly efficient and scarless editing via essential gene-coupled 1 homology-directed repair 2 Running title: Efficient scarless editing via essential gene HDR 3 4 Joo Hye Yeo1,2,3, Hyongbum Henry Kim2,3,4,5,6,7,8,9, Sang Ho Oh10, Jinu Lee1,* 5 6 1College of Pharmacy, Yonsei Institute...
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Method: Statistically rigorous and computationally efficient chromatin stripe detection with Quagga
- Fan Feng,
- Sean Moran,
- Anders S. Hansen,
- Xiaotian Zhang,
- and Jie Liu
Genome Res. January 2026 36: 159-168; Published in Advance November 12, 2025, doi:10.1101/gr.280132.124
...regulation, and cell differentiation. Nevertheless, StripeDiff does not provide a user-friendly package to directly call all stripes with common contact map files.Here we introduce Quagga, a statistically rigorous, algorithmically efficient, and interpretable tool to identify stripes. Quagga's biggest...
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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
...Nanopore sequencing identifies high-frequency somatic structural 1 variations in laryngeal squamous cell carcinoma s 2 Xuyan Liu1#, Lin Xia1#, Yixin Qiao2#, Yang Li1, Yan Huang1, Bingyan Yue2, Xi Liang2, Xin 3 Yang2, Honghui Zhang2, Jiaxun Zhang1, Xiao Chen1, Dan Xie1*, Jifeng Liu2,3* 4 1...
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Resource: A physical and genetic map of Cannabis sativa identifies extensive rearrangements at the THC/CBD acid synthase loci
- Kaitlin U. Laverty,
- Jake M. Stout,
- Mitchell J. Sullivan,
- Hardik Shah,
- Navdeep Gill,
- Larry Holbrook,
- Gintaras Deikus,
- Robert Sebra,
- Timothy R. Hughes,
- Jonathan E. Page,
- and Harm van Bakel
Genome Res. January 2019 29: 146-156; Published in Advance November 8, 2018, doi:10.1101/gr.242594.118
...′) were designed from alignments of THCAS-like genes identified in the cannabis to ensure their selectivity. Primers were tested using cloned THCAS, CBDAS, and CBCAS as templates. Any primer set that amplified a nontarget cDNA was discarded. Primer efficiencies were extrapolated from raw amplification...
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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
...their segregation.DiscussionIn this study, we set out to explore mitotic chromosome organization in different cell types and vertebrate species. Although mitotic chromosomes are often perceived as universal rod-shaped structures and folded into series of compressed loops (Câmara et al. 2024), we find...
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Method: RAmbler resolves complex repeats in human Chromosomes 8, 19, and X
- Sakshar Chakravarty,
- Glennis Logsdon,
- and Stefano Lonardi
Genome Res. April 2025 35: 863-876; Published in Advance March 4, 2025, doi:10.1101/gr.279308.124
...Fi reads T against the draft assembly G. Since unresolved tandem repeats are collapsed in the draft assembly, they can be identified by a spike in mapping coverage. For instance, Figure 4 shows the mapping coverage of an unresolved tandem repeat in Chromosome XII of S. cerevisiae which is known to contain...
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Method: Enabling efficient and robust analysis of tandem repeats in genomic data using wavefront-based string decomposer
- Junhai Qi,
- Zhidong Yang,
- Ting Yu,
- and Guojun Li
Genome Res. April 8, 2026 gr.281346.125; Published in Advance April 8, 2026, doi:10.1101/gr.281346.125
...computationally demanding. In this study, we introduce WSD10 (Wavefront-based StringDecomposer), a novel algorithm that enhances efficiency and accuracy in TRs decomposition.11 By integrating wavefront techniques, WSD significantly reduces computational and memory costs. Additionally, two12 adaptive strategies...
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Research: Analysis of canine gene constraint identifies new variants for orofacial clefts and stature
- Reuben M. Buckley,
- Nüket Bilgen,
- Alexander C. Harris,
- Peter Savolainen,
- Cafer Tepeli,
- Metin Erdoğan,
- Aitor Serres Armero,
- Dayna L. Dreger,
- Frank G. van Steenbeek,
- Marjo K. Hytönen,
- Heidi G. Parker,
- Jessica Hale,
- Hannes Lohi,
- Bengi Çınar Kul,
- Adam R. Boyko,
- and Elaine A. Ostrander
Genome Res. May 2025 35: 1080-1093; Published in Advance March 24, 2025, doi:10.1101/gr.280092.124
...). Identifying genetic variants that drive canine phenotypic variation will further define gene functions.Genetic association studies typically require an initial and robust characterization of a phenotype, a practice that ultimately limits the scope of potential findings to only those that can be recognized...
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Research: Hierarchical architecture of neo-sex chromosomes and accelerated adaptive evolution in tortricid moths
- Fangyuan Yang,
- Li-Jun Cao,
- Petr Nguyen,
- Zhong-Zheng Ma,
- Jin-Cui Chen,
- Wei Song,
- and Shu-Jun Wei
Genome Res. January 2025 35: 66-77; Published in Advance January 6, 2025, doi:10.1101/gr.279569.124
...reports (Wright et al. 2024), we detected a SA fusion comprising two ancient Merian elements (M17 + M20) and the Z Chromosome, forming the neo-Z Chromosome, F(20 + 17,Z) and two autosomal fusions specific to the Olethreutinae, F(5,13) and F(18,26) (Fig. 1A). We also identified several sporadic fusion...

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