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Review: The superpowers of imprinting control regions
- Bertille Montibus,
- Franck Court,
- and Philippe Arnaud
Genome Res. January 2026 36: 1-19; Published in Advance December 10, 2025, doi:10.1101/gr.281215.125
...conserved genomic clusters, which contain two or more maternally and paternally expressed genes in large regions of up to several megabases in size (Table 1; Fig. 1).View larger version: In this window In a new window Figure 1. Schematic representation of the genomic organization of the 10 largest imprinted...
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Method: OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities
- Siavash Raeisi Dehkordi,
- Zhaoyang Jia,
- Joey Estabrook,
- Jen Hauenstein,
- Neil Miller,
- Naz Güleray-Lafci,
- Jürgen Neesen,
- Alex Hastie,
- Alka Chaubey,
- Andy Wing Chun Pang,
- Paul Dremsek,
- and Vineet Bafna
Genome Res. December 2025 35: 2671-2681; Published in Advance November 14, 2025, doi:10.1101/gr.280536.125
...be very likely missed by exome sequencing/CMA.Optical mapping (OGM) provides an exciting alternative to diagnostic technologies that lie between cytogenetics and exome sequencing in terms of resolution. OGMs are large enough to span repetitive and low-complexity regions, while still being able to capture...
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Research: Genetic variation in recalcitrant repetitive regions of the Drosophila melanogaster genome
- Harsh G. Shukla,
- Mahul Chakraborty,
- and J.J. Emerson
Genome Res. September 2025 35: 2023-2040; Published in Advance July 16, 2025, doi:10.1101/gr.280728.125
...the evolution of these complex regions of the . However, we lack a detailed map of genetic variation within tandem arrays like histone or Stellate clusters, limiting inferences of molecular mechanisms or patterns of evolution in such clusters.Here, we present analyses of structure for three strains of D...
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Research: MHC in newts illuminates the evolutionary dynamics of complex regions in giant genomes
- Wiesław Babik,
- Katarzyna Dudek,
- Gemma Palomar,
- Marzena Marszałek,
- Grzegorz Dubin,
- Maximina H. Yun,
- and Magdalena Migalska
Genome Res. February 2026 36: 303-317; Published in Advance January 12, 2026, doi:10.1101/gr.281127.125
...assemblies. Comparative linkage maps of L. vulgaris and T. cristatus (France et al. 2025) indicate that the MHC region is located on the opposite ends of LG1 in these species—cM 101 and 15, respectively.View larger version: In this window In a new window Figure 3. Genes in the MHC region(s). Upper left...
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Method: Genome-wide maps of CPD deamination in yeast reveal the impact of DNA sequence context and nucleosome architecture on cytosine deamination rates
- Marian F. Laughery,
- Bastian Stark,
- Benjamin Morledge-Hampton,
- Steven A. Roberts,
- and John J. Wyrick
Genome Res. January 2026 36: 183-196; Published in Advance December 9, 2025, doi:10.1101/gr.280384.124
...deamination is specifically suppressed in regions neighboring the TSS and TES of genes in yeast cells. Similar analysis of dCPD enrichment at the 6 h and 24 h samples again showed suppression of CPD deamination in cells near the TSS and TES of genes (Fig. 4C,D).View larger version: In this window In a new...
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Research: Chromatin interaction maps identify oncogenic targets of enhancer duplications in cancer
- Yueqiang Song,
- Fuyuan Li,
- Shangzi Wang,
- Yuntong Wang,
- Cong Lai,
- Lian Chen,
- Ning Jiang,
- Jin Li,
- Xingdong Chen,
- Swneke D. Bailey,
- and Xiaoyang Zhang
Genome Res. October 2024 34: 1514-1527; Published in Advance October 18, 2024, doi:10.1101/gr.278418.123
...then mapped the PETs to continuous 5 kb bins within the regions of interest and presented the interactions as heatmaps using the gTrack package (Hadi et al. 2020). For calling significant chromatin loops, we used the hichipper pipeline (Lareau and Aryee 2018). In particular, we first used TCGA ATAC sites...
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Resource: A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq
- Sophia C. Gaynor-Gillett,
- Lijun Cheng,
- Manman Shi,
- Jason Liu,
- Gaoyuan Wang,
- Megan Spector,
- Qiuyu Guo,
- Le Qi,
- Mary Flaherty,
- Martha Wall,
- Ahyeon Hwang,
- Mengting Gu,
- Zhanlin Chen,
- Yuhang Chen,
- PsychENCODE Consortium,
- Jennifer R. Moran,
- Jing Zhang,
- Donghoon Lee,
- Mark Gerstein,
- Daniel Geschwind,
- and Kevin P. White
Genome Res. August 2025 35: 1887-1901; Published in Advance July 11, 2025, doi:10.1101/gr.279584.124
...), NPC lines, and developmental timepoints, to generate a list of putative enhancer regions to investigate using the phNPC model. Whereas other enhancer mapping tools such as massively parallel reporter assays (MPRAs) have been used to identify putative enhancer regions in primary human cortical cells...
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Research: Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice
- Leandros Boukas,
- Teresa Romeo Luperchio,
- Afrooz Razi,
- Kasper D. Hansen,
- and Hans T. Bjornsson
Genome Res. May 2024 34: 696-710; Published in Advance May 3, 2024, doi:10.1101/gr.278416.123
...developmental disorders caused by coding variants in epigenetic regulators have now been discovered. Epigenetic regulators are broadly expressed, and each of these disorders typically shows phenotypic manifestations from many different organ systems. An open question is whether the chromatin disruption—the root...
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Research: Ultraviolet damage and repair maps in Drosophila reveal the impact of domain-specific changes in nucleosome repeat length on repair efficiency
- Benjamin Morledge-Hampton,
- Kathiresan Selvam,
- Manish Chauhan,
- Alan G. Goodman,
- and John J. Wyrick
Genome Res. February 2025 35: 257-267; Published in Advance January 6, 2025, doi:10.1101/gr.279605.124
...modulate UV damage formation across the Drosophila .View larger version: In this window In a new window Figure 1. CPD-seq reads are enriched at dipyrimidines and minor-out positions in Drosophila. (A) An outline of the CPD-seq protocol used to generate a map of UV-induced CPDs in Drosophila. (B) Counts...
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Research: Long-read genome assembly of the insect model organism Tribolium castaneum reveals spread of satellite DNA in gene-rich regions by recurrent burst events
- Marin Volarić,
- Evelin Despot-Slade,
- Damira Veseljak,
- Brankica Mravinac,
- and Nevenka Meštrović
Genome Res. November 2024 34: 1878-1894; Published in Advance October 22, 2024, doi:10.1101/gr.279225.124
...DNAs can be efficiently assembled (Miga et al. 2020). Moreover, end-to-end maps of all human chromosomes, spanning highly repetitive (peri)centromeric and telomeric regions, have recently been obtained (Nurk et al. 2022).The beetle T. castaneum is a worldwide pest of stored products and the representative...
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