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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
...for functional variations in genes while preserving wild-type functions and can thus diversify functional adaptations in tumors.As FIEs were identified using functional families with PDB structures, they represent a subset of the total possible FIEs that could be identified given increased structural coverage...
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Resource: A systematic analysis of Trypanosoma brucei chromatin factors identifies novel protein interaction networks associated with sites of transcription initiation and termination
- Desislava P. Staneva,
- Roberta Carloni,
- Tatsiana Auchynnikava,
- Pin Tong,
- Juri Rappsilber,
- A. Arockia Jeyaprakash,
- Keith R. Matthews,
- and Robin C. Allshire
Genome Res. November 2021 31: 2138-2154; Published in Advance August 18, 2021, doi:10.1101/gr.275368.121
...). In the mammalian host, bloodstream form (BF) parasites are covered by a dense surface coat made of variant surface glycoprotein (VSG). Only a single VSG gene is expressed from an archive consisting of approximately 2000 VSG genes and gene fragments (Horn 2014). Periodically, T. brucei switches to express a new VSG...
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Method: Accurate estimation of intraspecific microbial gene content variation in metagenomic data with MIDAS v3 and StrainPGC
- Byron J. Smith,
- Chunyu Zhao,
- Veronika Dubinkina,
- Xiaofan Jin,
- Liron Zahavi,
- Saar Shoer,
- Jacqueline Moltzau-Anderson,
- Eran Segal,
- and Katherine S. Pollard
Genome Res. May 2025 35: 1247-1260; Published in Advance April 10, 2025, doi:10.1101/gr.279543.124
...with the existing reference database.View larger version: In this window In a new window Figure 4. StrainPGC reveals patterns of gene content variation across dozens of species. (A) Gene prevalence across inferred strains from HMP2 is very similar to prevalence in reference s. Combining genes from all species...
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Resource: The SynMall resource for characterizing the functional impact of synonymous variation
- Chen Ye,
- Xiaoyan Li,
- Na Cheng,
- Yansen Su,
- and Junfeng Xia
Genome Res. February 2026 36: 421-431; Published in Advance December 17, 2025, doi:10.1101/gr.281257.125
...literature. However, these databases are highly specialized, covering less than ∼3% of sSNVs in the human , and thus cannot serve as a comprehensive resource. On the other hand, whole- variation resources such as VarCards2 (Wang et al. 2024), FAVOR (Zhou et al. 2023), and CADD v1.7 (Schubach et al. 2024...
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Research: T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population
- Daniel Schmitz,
- Adam Ameur,
- and Åsa Johansson
Genome Res. November 2025 35: 2377-2388; Published in Advance September 16, 2025, doi:10.1101/gr.279320.124
...moderate and low impact, respectively, and the remaining 6.4% were rated high impact (Fig. 4B). Our results thus suggest that improved gene coverage facilitates detection of functionally relevant variation.We identified 17,446 LoF variants using T2T-CHM13, an increase from GRCh37 and GRCh38 (Table 1...
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Resource: Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise
- Aliza B. Rubenstein,
- Gregory R. Smith,
- Zidong Zhang,
- Xi Chen,
- Toby L. Chambers,
- Frederique Ruf-Zamojski,
- Natalia Mendelev,
- Wan Sze Cheng,
- Michel Zamojski,
- Mary Anne S. Amper,
- Venugopalan D. Nair,
- Andrew R. Marderstein,
- Stephen B. Montgomery,
- Olga G. Troyanskaya,
- Elena Zaslavsky,
- Todd Trappe,
- Scott Trappe,
- and Stuart C. Sealfon
Genome Res. July 2025 35: 1664-1677; Published in Advance May 20, 2025, doi:10.1101/gr.280051.124
...the driving TFs as opposed to when comparing the regulated circuit genes (Fig. 4C).View larger version: In this window In a new window Figure 4. Regulatory circuitry of exercise reveals molecular mechanisms underlying exercise response. (A) Schematic figure showing the components of regulatory circuits...
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Review: A systematic guide for identifying transcription factors that directly regulate the expression of a gene of interest
- Andrew D. Bates,
- Dawid Grzela,
- Maciej Studzian,
- Louise Brennan,
- Moli Williams,
- Conor Fawcett,
- Beth Hammond,
- Manreen Grewal,
- Marcin Ratajewski,
- Lukasz Pulaski,
- and Urszula L. McClurg
Genome Res. March 2026 36: 433-459; Published in Advance February 17, 2026, doi:10.1101/gr.281154.125
.... More specialized tools for this approach include the Peak Browser at ChIP Atlas (Oki et al. 2018) or browsing ChIPBase (Huang et al. 2023), which is especially strong for ncRNAs but can also be used for mRNA genes. The Eukaryotic Promoter Database ExPASy has the useful Mass Genome Annotation Archive...
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Method: Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit
- David R. Lougheed,
- Tomi Pastinen,
- and Guillaume Bourque
Genome Res. March 2026 36: 578-588; Published in Advance January 15, 2026, doi:10.1101/gr.280766.125
...variation to gene regulation in human brain. Nat Genet 57: 369–378. doi:10.1038/s41588-024-02057-2 ↵Daily J. 2016. Parasail: SIMD C library for global, semi-global, and local pairwise sequence alignments. BMC Bioinformatics 17: 81. doi:10.1186/s12859-016-0930-z ↵De Coster W, Hoijer I, Bruggeman I, D'Hert S...
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Research: Landscape of microRNA and target expression variation and covariation in single mouse embryonic stem cells
- Marcel Tarbier,
- Sebastian D. Mackowiak,
- Vaishnovi Sekar,
- Franziska Bonath,
- Etka Yapar,
- Bastian Fromm,
- Omid R. Faridani,
- Inna Biryukova,
- and Marc R. Friedländer
Genome Res. February 2026 36: 291-302; Published in Advance January 12, 2026, doi:10.1101/gr.279914.124
...is well established that miRNAs can repress the expression of their targets, at both the RNA and the protein level (Baek et al. 2008; Selbach et al. 2008). However, alternative functions for miRNAs have also been proposed, including buffering of gene expression variation (noise) (Hornstein and Shomron...
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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 gr.281113.125; Published in Advance March 4, 2026, doi:10.1101/gr.281113.125
...1 Title 1 Single-nucleus multiomic profiling of the aging mouse substantia nigra reveals 2 conserved gene alterations linked to Parkinson’s disease 3 Running title: Substantia nigra aging linked to Parkinson 4 Kangli Wang1, Weikun Xia1, Yingli Gu1, Songpeng Zu1, Qian Yang2, Maria Luisa Amaral1...
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