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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
...Institute, Kansas City, Missouri 64108, USA; 4Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, Montréal, Québec H3A 0G1, Canada Corresponding authors: david.lougheed@mail.mcgill.ca, guil.bourque@mcgill.caAbstractVariation in short tandem repeats (STRs) is implicated in Mendelian...
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Method: Accurate detection of tandem repeats from error-prone sequences with EquiRep
- Zhezheng Song,
- Tasfia Zahin,
- Xiang Li,
- and Mingfu Shao
Genome Res. December 2025 35: 2714-2721; Published in Advance August 21, 2025, doi:10.1101/gr.280750.125
...repeats on signal data from nanopore sequencing. Genome Biol 23: 108. doi:10.1186/s13059-022-02670-6 ↵Gao Y, Liu B, Wang Y, Xing Y. 2019. TideHunter: efficient and sensitive tandem repeat detection from noisy long-reads using seed-and-chain. Bioinformatics 35: i200–i207. doi:10.1093/bioinformatics/btz376...
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Method: Multisample motif discovery and visualization for tandem repeats
- Yaran Zhang,
- Marc Hulsman,
- Alex Salazar,
- Niccolò Tesi,
- Lydian Knoop,
- Sven van der Lee,
- Sanduni Wijesekera,
- Jana Krizova,
- Erik-Jan Kamsteeg,
- and Henne Holstege
Genome Res. April 2025 35: 850-862; Published in Advance November 13, 2024, doi:10.1101/gr.279278.124
...an established motif set to decompose repeat sequences, may be more suitable alternatives. Future iterations of MotifScope might therefore benefit from incorporating a more robust initial repeat structure identification step. Exact motif descriptions of highly complex repeats in combination with the here...
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Method: Robust and efficient annotation of cell states through gene signature scoring
- Laure Ciernik,
- Agnieszka Kraft,
- Florian Barkmann,
- Josephine Yates,
- and Valentina Boeva
Genome Res. March 2026 36: 630-644; Published in Advance February 18, 2026, doi:10.1101/gr.280926.125
..., particularly for unsupervised cellular state annotation based on maximum signature score values. However, this application requires robust and comparable score distributions across diverse signatures and experimental conditions. Our systematic evaluation of established scoring methodologies—Seurat, SCANPY...
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Method: Estimating the size of long tandem repeat expansions from short reads with ScatTR
- Rashid Al-Abri and
- Gamze Gürsoy
Genome Res. December 2025 35: 2701-2713; Published in Advance August 21, 2025, doi:10.1101/gr.280563.125
...with lengths that greatly exceed typical sequencing fragment sizes. When applied to data from the 1000 Genomes Project, ScatTR detects potential large TR expansions that other methods missed, highlighting its ability to better characterize -wide TR variation.Tandem repeats (TRs) are consecutively repeated...
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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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Resource: Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
- Wouter De Coster,
- Ida Höijer,
- Inge Bruggeman,
- Svenn D'Hert,
- Malin Melin,
- Adam Ameur,
- and Rosa Rademakers
Genome Res. November 2024 34: 2074-2080; Published in Advance August 15, 2024, doi:10.1101/gr.279265.124
...in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications. Nat Rev Genet 25: 476–499. doi:10.1038/s41576-024-00696-z ↵Ren J, Gu B, Chaisson MJP. 2023. Vamos: variable-number tandem repeats annotation using efficient motif sets. Genome Biol 24: 175. doi:10.1186/s13059...
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Method: RAmbler resolves complex repeats in human Chromosomes 8, 19, and X
- Sakshar Chakravarty,
- Glennis Logsdon,
- and Stefano Lonardi
Genome Res. April 2025 35: 863-876; Published in Advance March 4, 2025, doi:10.1101/gr.279308.124
...}, coverage depth = {20×,30×,40×}. (B) Number of true unikmers as a function of mutation rate and repeat unit's sizes (five copies).MethodsProblem formulationWe assume that (1) the G contains n repetitive regions {R1, …, Ri, …, Rn}, (2) each repetitive region Ri is composed of ti tandem copies of a string αi...
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Method: Robust 16S rRNA classification based on a compressed LCA index
- Omar Ahmed,
- Christina Boucher,
- and Ben Langmead
Genome Res. December 2025 35: 2650-2660; Published in Advance August 25, 2025, doi:10.1101/gr.279846.124
...determine if a query string is present or absent in the index (Mäkinen and Navarro 2005), but a harder task is to find where the query string occurs. For this, Gagie et al. (2018) proposed a subsampling strategy for the suffix array (SA) along with efficient algorithms for “locate” queries, returning all...
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Research: The motif composition of variable number tandem repeats impacts gene expression
- Tsung-Yu Lu,
- Paulina N. Smaruj,
- Geoffrey Fudenberg,
- Nicholas Mancuso,
- and Mark J.P. Chaisson
Genome Res. April 2023 33: 511-524; Published in Advance April 10, 2023, doi:10.1101/gr.276768.122
...composition from s sequenced by the Genotype-Tissue Expression (GTEx) project and Geuvaids to identify motif cis-eQTLs. We envision this as a framework for genetics studies to associate tandem repeat variation to traits when only short-read data are available.ResultsRPGGs enable accurate profiling of motif...
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