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Method: EnDeep4mC predicts DNA N⁴-methylcytosine sites using a dual-adaptive feature encoding framework in deep ensembles
- Shuyu Zhang,
- Quan Zou,
- Mengting Niu,
- Zhibin Lv,
- Antony Stalin,
- and Ximei Luo
Genome Res. March 2026 36: 589-599; Published in Advance February 17, 2026, doi:10.1101/gr.280977.125
..., which was calculated as follows: (1) where I is the indicator function, and ytest, represent the true label and the prediction result, respectively.Second, generate feature utility ranking R(s, k) = [f(1), f(2), …, f(i), …, f(14)] for pairs determined by species and model (s, k), where f(i) denotes...
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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
...sequences and their association with expression quantitative trait loci (eQTLs) to form the most comprehensive resource of this type, accessible through the UCSC Genome Browser. If your GOI and/or candidate TF are known to be expressed in human cancer, two useful tools that are relevant are DepMap, which...
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Method: A spectral component approach leveraging identity-by-descent graphs to address recent population structure in genomic analysis
- Ruhollah Shemirani,
- Gillian M. Belbin,
- Sinead Cullina,
- Christa Caggiano,
- Christopher R. Gignoux,
- Noah Zaitlen,
- and Eimear E. Kenny
Genome Res. March 2026 36: 534-546; Published in Advance December 23, 2025, doi:10.1101/gr.280659.125
...Ruhollah Shemirani1, Gillian M. Belbin1,9, Sinead Cullina1,2, Christa Caggiano1, Christopher R. Gignoux3,4, Noah Zaitlen5,6,7 and Eimear E. Kenny1,2,8 1Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA; 2Department of Genetics and Genomic Sciences...
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Method: ML-MAGES enables multivariate genetic association analyses with genes and effect size shrinkage
- Xiran Liu,
- Lorin Crawford,
- and Sohini Ramachandran
Genome Res. December 2025 35: 2691-2700; Published in Advance November 19, 2025, doi:10.1101/gr.280440.125
...and recommendations for their application. Am J Hum Gene 86: 6–22. doi:10.1016/j.ajhg.2009.11.017 ↵Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. 2015. Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience 4: s13742-015. doi:10.1186/s13742-015-0047-8 ↵Chen EY...
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Mini-Review: The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
- Giulia F. Del Gobbo and
- Kym M. Boycott
Genome Res. April 2025 35: 559-571; Published in Advance February 3, 2025, doi:10.1101/gr.279970.124
...assess sequence variants (single nucleotide variants [SNVs] or insertions/deletions <50 bp), with the added ability to detect certain copy number variants and some structural variants (SVs, genomic alterations >50 bp in size). Since its more widespread adoption, -wide SRS, primarily SR-ES, has emerged...
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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
...@tamu.edu, jje@uci.eduAbstractMany essential functions of organisms are encoded in highly repetitive genomic regions, including histones involved in DNA packaging, centromeres that are core components of chromosome segregation, ribosomal RNA comprising the protein translation machinery, telomeres that ensure...
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Method: Accurate short-read alignment through r-index-based pangenome indexing
- Rahul Varki,
- Massimiliano Rossi,
- Eddie Ferro,
- Marco Oliva,
- Erik Garrison,
- Ben Langmead,
- and Christina Boucher
Genome Res. July 2025 35: 1609-1620; Published in Advance June 12, 2025, doi:10.1101/gr.279858.124
.... Originally developed from bacterial studies aimed at understanding the complete genetic diversity of bacterial genes, the concept of the pan has been expanded to encompass the full genomic variation within any biological population (Golicz et al. 2020; Abondio et al. 2023). Because of lower sequencing costs...
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Method: CoRAL accurately resolves extrachromosomal DNA genome structures with long-read sequencing
- Kaiyuan Zhu,
- Matthew G. Jones,
- Jens Luebeck,
- Xinxin Bu,
- Hyerim Yi,
- King L. Hung,
- Ivy Tsz-Lo Wong,
- Shu Zhang,
- Paul S. Mischel,
- Howard Y. Chang,
- and Vineet Bafna
Genome Res. September 2024 34: 1344-1354; Published in Advance July 9, 2024, doi:10.1101/gr.279131.124
...CoRAL accurately resolves extrachromosomal DNA structures with long-read sequencing Kaiyuan Zhu1,10, Matthew G. Jones2,10, Jens Luebeck1, Xinxin Bu3, Hyerim Yi2,4, King L. Hung2, Ivy Tsz-Lo Wong5,6, Shu Zhang2,5,7, Paul S. Mischel5,6, Howard Y. Chang2,4,8 and Vineet Bafna1,9 1Department of Computer...
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Erratum: Erratum: Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information
- Zhoutao Chen,
- Long Pham,
- Tsai-Chin Wu,
- Guoya Mo,
- Yu Xia,
- Peter L. Chang,
- Devin Porter,
- Tan Phan,
- Huu Che,
- Hao Tran,
- Vikas Bansal,
- Justin Shaffer,
- Pedro Belda-Ferre,
- Greg Humphrey,
- Rob Knight,
- Pavel Pevzner,
- Son Pham,
- Yong Wang,
- and Ming Lei
Genome Res. May 2021 31: 934; doi:10.1101/gr.275614.121
...Zhoutao Chen, Long Pham, Tsai-Chin Wu, Guoya Mo, Yu Xia, Peter L. Chang, Devin Porter, Tan Phan, Huu Che, Hao Tran, Vikas Bansal, Justin Shaffer, Pedro Belda-Ferre, Greg Humphrey, Rob Knight, Pavel Pevzner, Son Pham, Yong Wang and Ming Lei Genome Research 30: 898–909 (2020)Supplemental Table S8...
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Research: Extreme heterochiasmy and high rates of sex-reversed recombination result in large yet homomorphic sex chromosomes in the Emei moustache toad
- Siyu Xie,
- Jun Li,
- Wanyan Chen,
- Lydia J.M. Fong,
- Chunhua Huang,
- Yan Feng,
- Qingbo Ai,
- Mian Zhao,
- Judith E. Mank,
- and Hua Wu
Genome Res. June 2025 35: 1325-1336; Published in Advance April 24, 2025, doi:10.1101/gr.280161.124
...a low density of markers, which hinders a detailed understanding of the causes and consequences of homomorphy on the gene content of sex-limited chromosomes (Brelsford et al. 2016c). Relying on whole- sequencing to compare genomic information between males and females not only allows for the accurate...

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