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Method: Gene duplication is associated with gene diversification and potential neofunctionalization in lung cancer evolution
- Paul Ashford,
- Alexander M. Frankell,
- Zofia Piszka,
- Camilla S.M. Pang,
- Mahnaz Abbasian,
- Maise Al Bakir,
- Mariam Jamal-Hanjani,
- Nicholas McGranahan,
- Charles Swanton,
- and Christine A. Orengo
Genome Res. March 2026 36: 561-577; Published in Advance February 19, 2026, doi:10.1101/gr.278663.123
...; and neofunctionalization, in which duplicates evolve new functions (Taylor and Raes 2004; Hahn 2009; Kondrashov 2012; Kuzmin et al. 2022). Genome sequencing has supported the view that whole- duplication (WGD) events frequently occur during evolution across all domains of life, with many plant species retaining polyploid...
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Research: The role of transposon activity in shaping cis-regulatory element evolution after whole-genome duplication
- Øystein Monsen,
- Lars Grønvold,
- Alex Datsomor,
- Thomas Harvey,
- James Kijas,
- Alexander Suh,
- Torgeir R. Hvidsten,
- and Simen Rød Sandve
Genome Res. March 2025 35: 475-488; Published in Advance February 12, 2025, doi:10.1101/gr.278931.124
...in evolution. WGDs can increase TE activity directly through cellular stress or indirectly by relaxing selection against TE insertions in functionally redundant, duplicated regions. Because TEs can function as, or evolve into, TE-derived cis-regulatory elements (TE-CREs), bursts of TE activity following WGD...
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Research: Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
- Jesper Eisfeldt,
- Edward J. Higginbotham,
- Felix Lenner,
- Jennifer Howe,
- Bridget A. Fernandez,
- Anna Lindstrand,
- Stephen W. Scherer,
- and Lars Feuk
Genome Res. November 2024 34: 1763-1773; Published in Advance October 29, 2024, doi:10.1101/gr.279263.124
...is characterized by chains of duplications and deletions. Chromoanasynthesis is believed to take place during DNA replication and is commonly caused through a series of fork-stalling and template-switching events (Zepeda-Mendoza and Morton 2019). Previously, CGRs were considered to be infrequent occurrences...
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Resource: Interspecies systems biology links bacterial metabolic pathways to nematode gene expression, chemotaxis behavior, and survival
- Marina Athanasouli,
- Tobias Loschko,
- and Christian Rödelsperger
Genome Res. October 2025 35: 2363-2374; Published in Advance August 5, 2025, doi:10.1101/gr.280848.125
..., Alpha-, Beta- and Gammaproteobacteria, and represent 16 genera. These 38 bacteria were selected because they supported complete development from egg to adult for at least two generations, which was not the case for all the strains. For each bacterial strain, we generated two biological replicates...
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Method: Taurine pangenome uncovers a segmental duplication upstream of KIT associated with depigmentation in white-headed cattle
- Sotiria Milia,
- Alexander S. Leonard,
- Xena Marie Mapel,
- Sandra Milena Bernal Ulloa,
- Cord Drögemüller,
- and Hubert Pausch
Genome Res. April 2025 35: 1041-1052; Published in Advance December 18, 2024, doi:10.1101/gr.279064.124
...Taurine pan uncovers a segmental duplication upstream of KIT associated with depigmentation in white-headed cattle Sotiria Milia1,4, Alexander S. Leonard1,4, Xena Marie Mapel1, Sandra Milena Bernal Ulloa2, Cord Drögemüller3 and Hubert Pausch1 1Animal Genomics, ETH Zurich, Zurich 8092, Switzerland...
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Research: Ancestral aneuploidy and stable chromosomal duplication resulting in differential genome structure and gene expression control in trypanosomatid parasites
- João L. Reis-Cunha,
- Samuel A. Pimenta-Carvalho,
- Laila V. Almeida,
- Anderson Coqueiro-dos-Santos,
- Catarina A. Marques,
- Jennifer A. Black,
- Jeziel Damasceno,
- Richard McCulloch,
- Daniella C. Bartholomeu,
- and Daniel C. Jeffares
Genome Res. March 2024 34: 441-453; Published in Advance April 11, 2024, doi:10.1101/gr.278550.123
...to their functionality. Second, T. brucei and related African trypanosomes have more recently evolved to largely dispense with aneuploidy, perhaps reflecting reorganization. Third, we have identified the presence of an ancestral chromosomal duplication, named collectively as “TASC,” which has been maintained throughout...
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Research: Accurate genotyping of three major respiratory bacterial pathogens with ONT R10.4.1 long-read sequencing
- Nora Zidane,
- Carla Rodrigues,
- Valérie Bouchez,
- Martin Rethoret-Pasty,
- Virginie Passet,
- Sylvain Brisse,
- and Chiara Crestani
Genome Res. August 2025 35: 1758-1766; Published in Advance June 2, 2025, doi:10.1101/gr.279829.124
...Nora Zidane1, Carla Rodrigues1,2, Valérie Bouchez1,2, Martin Rethoret-Pasty1, Virginie Passet1,3, Sylvain Brisse1,2,3 and Chiara Crestani1 1Institut Pasteur, Université Paris Cité, Biodiversity and Epidemiology of Bacterial Pathogens, 75015 Paris, France; 2Institut Pasteur, National Reference...
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Method: Targeted, programmable, and precise tandem duplication in the mammalian genome
- Yaoge Jiao,
- Min Li,
- Xingyu He,
- Yanhong Wang,
- Junwei Song,
- Yun Hu,
- Li Li,
- Lifang Zhou,
- Lurong Jiang,
- Junyan Qu,
- Lifang Xie,
- Qiang Chen,
- and Shaohua Yao
Genome Res. May 2023 33: 779-786; Published in Advance June 9, 2023, doi:10.1101/gr.277261.122
...of the indicated TDs. Values and error bars reflect the mean ± SD of n = 3 independent biological replicates. (C) Different types of TDs in HEK3 TD 136 bp were analyzed by Oxford Nanopore sequencing. Each blue line in the output represents one single copy of the duplications. (D) PCR strategy for detecting...
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Research: Diversity, duplication, and genomic organization of homeobox genes in Lepidoptera
- Peter O. Mulhair,
- Liam Crowley,
- Douglas H. Boyes,
- Amber Harper,
- Owen T. Lewis,
- Darwin Tree of Life Consortium,
- and Peter W.H. Holland
Genome Res. January 2023 33: 32-44; Published in Advance December 8, 2022, doi:10.1101/gr.277118.122
...gene number on the stem lineage of bilaterian animals, when a head-to-tail axis evolved to dominate the body plan (Finnerty and Martindale 1998; Holland 2015; Nong et al. 2020); there was also an increase in the early evolution of vertebrates, traceable to duplication (Soshnikova et al. 2013; Aase...
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Method: Accurate bacterial outbreak tracing with Oxford Nanopore sequencing and reduction of methylation-induced errors
- Mara Lohde,
- Gabriel E. Wagner,
- Johanna Dabernig-Heinz,
- Adrian Viehweger,
- Sascha D. Braun,
- Stefan Monecke,
- Celia Diezel,
- Claudia Stein,
- Mike Marquet,
- Ralf Ehricht,
- Mathias W. Pletz,
- and Christian Brandt
Genome Res. November 2024 34: 2039-2047; Published in Advance October 23, 2024, doi:10.1101/gr.278848.123
...and expansion of sequencing capacities in many laboratories and hospitals, predominantly using Illumina for short-read sequencing or Oxford Nanopore Technologies (ONT) for long-read sequencing (∼78% and 18%, respectively) (Brandt et al. 2021). Beyond viral pandemic tracking, bacterial pathogen outbreaks...
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