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Review: k-mer approaches for biodiversity genomics
- Katharine M. Jenike,
- Lucía Campos-Domínguez,
- Marilou Boddé,
- José Cerca,
- Christina N. Hodson,
- Michael C. Schatz,
- and Kamil S. Jaron
Genome Res. February 2025 35: 219-230; Published in Advance January 31, 2025, doi:10.1101/gr.279452.124
...process of dividing the analyzed sequences (e.g., raw reads or s) into a set of subsequences of length k, called k-mers, and then analyzing the frequency or sequences of those k-mers. Analyses based on k-mers allow for a rapid and intuitive assessment of complex sequencing data sets. Here, we provide...
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Method: k-mer cross-species profiling reveals taxon-specific TE expansions accompanied by KZFP co-option and functional impacts in ruminants
- Pengju Zhao,
- Jiayi He,
- Chen Peng,
- Yuelang Zhang,
- Chong Wang,
- Dongyou Yu,
- Lingzhao Fang,
- and Zhengguang Wang
Genome Res. March 23, 2026 gr.281289.125; Published in Advance March 23, 2026, doi:10.1101/gr.281289.125
...of KZFPs (approximately 271 46 per ), which reflect established phylogenies. Among TEs, LINE/RTE-BovB 47 dominates genomic content (55.7%), while LTR/ERVK subfamilies show significant 48 taxon-specific variation. Our k-mer-based clustering approach effectively reconstructs 49 ruminant phylogeny and reveals...
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Method: k-mer manifold approximation and projection for visualizing DNA sequences
- Chengbo Fu,
- Einari A. Niskanen,
- Gong-Hong Wei,
- Zhirong Yang,
- Marta Sanvicente-García,
- Marc Güell,
- and Lu Cheng
Genome Res. May 2025 35: 1234-1246; Published in Advance April 10, 2025, doi:10.1101/gr.279458.124
...sequences. Zielezinski et al. (2017) demonstrated the effectiveness of alignment-free, k-mer-based methods for uncovering conserved genomic motifs and analyzing sequence similarity, whereas Fan et al. (2015) explored k-mers in comparative genomics, showing how they can approximate phylogenetic relationships...
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Method: Memory-bound k-mer selection for large and evolutionarily diverse reference libraries
- Ali Osman Berk Şapcı and
- Siavash Mirarab
Genome Res. September 2024 34: 1455-1467; Published in Advance August 29, 2024, doi:10.1101/gr.279339.124
...benchmarks, KRANK k-mer selection significantly reduces memory consumption with minimal loss in classification accuracy. We show in extensive analyses based on CAMI benchmarks that KRANK outperforms k-mer-based alternatives in terms of taxonomic profiling and comes close to the best marker-based methods...
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Method: Rapid and accurate demultiplexing of direct RNA nanopore sequencing data with SeqTagger
- Leszek P. Pryszcz,
- Gregor Diensthuber,
- Laia Llovera,
- Rebeca Medina,
- Anna Delgado-Tejedor,
- Luca Cozzuto,
- Julia Ponomarenko,
- and Eva Maria Novoa
Genome Res. April 2025 35: 956-966; Published in Advance January 29, 2025, doi:10.1101/gr.279290.124
...Tagger is a rapid and accurate demultiplexing program that is robust across different sequencing chemistries (RNA002, RNA004), devices (MinION, PromethION), and RNA species (mRNA, tRNA), supporting both FAST5 and POD5 file formats. It achieves very high precision and recall on both smaller (4) and larger (96...
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Method: Automated interpretable artificial intelligence genomic prediction with AlGP
- Lei Wei,
- Ziqin Jiang,
- Baoliang Fan,
- Yidan Yan,
- Zhenqiang Xu,
- Xiaoxiang Hu,
- and Yuzhe Wang
Genome Res. March 5, 2026 ; Published in Advance March 5, 2026, doi:10.1101/gr.281006.125
..., highlighting the practical value of dimensionality reduction in large-scale genomic analyses. Design of integrated artificial intelligence software for GP We integrated a user-friendly toolkit named artificial intelligence GP (AIGP) (Fig. 6). Specifically, AIGP begins with raw feature data that undergo...
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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
...: 1048516. doi:10.3389/fcimb.2022.1048516 ↵Hallgren MB, Overballe-Petersen S, Lund O, Hasman H, Clausen PTLC. 2021. MINTyper: an outbreak-detection method for accurate and rapid SNP typing of clonal clusters with noisy long reads. Biology Methods and Protocols 6: bpab008. doi:10.1093/biomethods/bpab008...
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Method: Autoencoders for genomic variation analysis
- Margarita Geleta,
- Daniel Mas Montserrat,
- Xavier Giro-i-Nieto,
- and Alexander G. Ioannidis
Genome Res. February 2026 36: 348-360; Published in Advance January 20, 2026, doi:10.1101/gr.280086.124
...disparities and promote equity in precision medicine (Rhead et al. 2023). This creates a need for new, efficient, and accurate data-driven algorithmic tools to store, visualize, and characterize high-dimensional genomic data. Whereas many traditional statistical techniques for genomic data like hidden Markov...
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Method: Highly accurate assembly polishing with DeepPolisher
- Mira Mastoras,
- Mobin Asri,
- Lucas Brambrink,
- Prajna Hebbar,
- Alexey Kolesnikov,
- Daniel E. Cook,
- Maria Nattestad,
- Julian Lucas,
- Taylor S. Won,
- Pi-Chuan Chang,
- Andrew Carroll,
- Benedict Paten,
- Kishwar Shafin,
- and and the Human Pangenome Reference Consortium
Genome Res. July 2025 35: 1595-1608; Published in Advance May 19, 2025, doi:10.1101/gr.280149.124
...methods generally report a quality value (QV), a log base 10–scaled measure of assembly error, with higher values indicating more accurate assemblies. We find that DeepPolisher improves the k-mer-based assembly QV by 1.8, equivalent to a 34% reduction in errors, which is approximately consistent...
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Method: Highly accurate reference and method selection for universal cross–data set cell type annotation with CAMUS
- Qunlun Shen,
- Shuqin Zhang,
- and Shihua Zhang
Genome Res. November 2025 35: 2527-2538; Published in Advance October 1, 2025, doi:10.1101/gr.280821.125
.... To this end, we present a cross–data set cell type annotation methodology with a universal reference data and method selection strategy (CAMUS) to achieve highly accurate and efficient annotations. We demonstrate the advantages of CAMUS by conducting comprehensive analyses on 672 pairs of cross-species sc...

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