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Research: Third-generation sequencing revises the molecular karyotype for Toxoplasma gondii and identifies emerging copy number variants in sexual recombinants
- Jing Xia,
- Aarthi Venkat,
- Rachel E. Bainbridge,
- Michael L. Reese,
- Karine G. Le Roch,
- Ferhat Ay,
- and Jon P. Boyle
Genome Res. May 2021 31: 834-851; Published in Advance April 27, 2021, doi:10.1101/gr.262816.120
...(Table 3).View this table: In this window In a new window Table 1. Description of the Toxoplasma gondii and Neospora caninum strains sequenced in this studyView this table: In this window In a new window Table 2. Metrics of long-read assemblies and the reference s after polishingView this table...
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Research: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- Jesper Eisfeldt,
- Adam Ameur,
- Felix Lenner,
- Esmee Ten Berk de Boer,
- Marlene Ek,
- Josephine Wincent,
- Raquel Vaz,
- Jesper Ottosson,
- Tord Jonson,
- Sofie Ivarsson,
- Sofia Thunström,
- Alexandra Topa,
- Simon Stenberg,
- Anna Rohlin,
- Anna Sandestig,
- Margareta Nordling,
- Pia Palmebäck,
- Magnus Burstedt,
- Frida Nordin,
- Eva-Lena Stattin,
- Maria Sobol,
- Panagiotis Baliakas,
- Marie-Louise Bondeson,
- Ida Höijer,
- Kristine Bilgrav Saether,
- Lovisa Lovmar,
- Hans Ehrencrona,
- Malin Melin,
- Lars Feuk,
- and Anna Lindstrand
Genome Res. November 2024 34: 1774-1784; Published in Advance October 29, 2024, doi:10.1101/gr.279510.124
...–1146. doi:10.1016/j.tig.2022.06.003 ↵Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, et al. 2024. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements. Genet. Med. Open 2...
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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 critical need for organ function preservation. 55 56 In recent years, pan-cancer genomic studies have highlighted the pivotal role of structural 57 variants in the occurrence and progression of cancer(Cosenza et al. 2022). Structural variants 58 (SVs), which encompass large genomic rearrangements exceeding...
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Research: Elasmobranch genome sequencing reveals evolutionary trends of vertebrate karyotype organization
- Kazuaki Yamaguchi,
- Yoshinobu Uno,
- Mitsutaka Kadota,
- Osamu Nishimura,
- Ryo Nozu,
- Kiyomi Murakumo,
- Rui Matsumoto,
- Keiichi Sato,
- and Shigehiro Kuraku
Genome Res. September 2023 33: 1527-1540; Published in Advance August 17, 2023, doi:10.1101/gr.276840.122
...studied and comparative statistics of their assemblies. (A) The karyotypes of diverse vertebrate species are depicted with the length of individual chromosomal DNA sequences. The maximum and minimum chromosome lengths are based on the records in NCBI Genomes. Microchromosomes for osteichthyans are shown...
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Research: Rearrangements of viral and human genomes at human papillomavirus integration events and their allele-specific impacts on cancer genome regulation
- Vanessa L. Porter,
- Michelle Ng,
- Kieran O'Neill,
- Signe MacLennan,
- Richard D. Corbett,
- Luka Culibrk,
- Zeid Hamadeh,
- Marissa Iden,
- Rachel Schmidt,
- Shirng-Wern Tsaih,
- Carolyn Nakisige,
- Martin Origa,
- Jackson Orem,
- Glenn Chang,
- Jeremy Fan,
- Ka Ming Nip,
- Vahid Akbari,
- Simon K. Chan,
- James Hopkins,
- Richard A. Moore,
- Eric Chuah,
- Karen L. Mungall,
- Andrew J. Mungall,
- Inanc Birol,
- Steven J.M. Jones,
- Janet S. Rader,
- and Marco A. Marra
Genome Res. April 2025 35: 653-670; Published in Advance December 5, 2024, doi:10.1101/gr.279041.124
...structures, methylation patterns, and transcriptional regulation associated with these loci. Our analysis revealed the extent of cis-linked genomic dysregulation resulting from HPV integration, including structural rearrangements and modulation of virus and host gene expression and epigenetic regulation...
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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
...). We investigate the genomic organization of the MHC region, ontogenetic and tissue-specific expression profiles, and the evolutionary history of the MHC gene family. To achieve this, we integrated publicly available chromosome-scale assemblies from four newt species with newly generated long...
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Research: A novel fragmented mitochondrial genome in the protist pathogen Toxoplasma gondii and related tissue coccidia
- Sivaranjani Namasivayam,
- Rodrigo P. Baptista,
- Wenyuan Xiao,
- Erica M. Hall,
- Joseph S. Doggett,
- Karin Troell,
- and Jessica C. Kissinger
Genome Res. May 2021 31: 852-865; Published in Advance April 27, 2021, doi:10.1101/gr.266403.120
...orders in T. gondii and N. caninum mtDNAmtDNA sequence blocks are evolutionarily conserved in the Toxoplasmatinae but not EimeriaWe analyzed available genomic and transcriptomic data for the closely related Neospora caninum. All 21 mtDNA SBs are highly conserved between the two species in sequence...
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Research: Dynamic evolution of satellite DNAs drastically differentiates the genomes of Tribolium sibling species
- Damira Veseljak,
- Evelin Despot-Slade,
- Marin Volarić,
- Lucija Horvat,
- Tanja Vojvoda Zeljko,
- Nevenka Meštrović,
- and Brankica Mravinac
Genome Res. November 2025 35: 2445-2460; Published in Advance September 16, 2025, doi:10.1101/gr.280516.125
...DNAs with a lower proportion (<0.02%) revealed a distinct signal only on one chromosome pair (Supplemental Fig. S3D–F), which is generally consistent with the in silico analysis. In terms of monomer repetitiveness, 71 satDNAs were found exclusively in arrays of five or more consecutive repeats, whereas...
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Method: Large-scale detection and characterization of inter-chromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets
- Jeanlin Jourdain,
- Harmonie Barasc,
- Thomas Faraut,
- Anne Calgaro,
- Nathalie Bonnet,
- Camille Marcuzzo,
- Amandine Suin,
- Anne Barbat,
- Chris Hozé,
- Florian Besnard,
- Sébastien Taussat,
- Cécile Grohs,
- Claire Kuchly,
- Carole Iampietro,
- Cécile Donnadieu,
- Alain Pinton,
- Didier Boichard,
- and Aurélien Capitan
Genome Res. July 6, 2023 ; Published in Advance July 6, 2023, doi:10.1101/gr.277787.123
...rearrangements in cattle by searching for abnormal linkage disequilibrium patterns between markers located on different chromosomes in large paternal half-sib families genotyped as part of routine genomic evaluations. We screened 5571 families of artificial insemination sires from 15 breeds and revealed 13...
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RECOMB 2022 Special/Methods: Assembler artifacts include misassembly because of unsafe unitigs and underassembly because of bidirected graphs
- Amatur Rahman and
- Paul Medvedev
Genome Res. September 2022 32: 1746-1753; Published in Advance July 27, 2022, doi:10.1101/gr.276601.122
...to which this happens with real s, we use T2T human reference Chromosome 1 (Nurk et al. 2022). We simulated error-free reads of length 100 with varying target coverages and varying k. Note that for this experiment, we want to test if misassemblies occur even when the data are perfect, so making the reads...

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