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Method: spRefine denoises and imputes spatial transcriptomic data with a reference-free framework powered by genomic language model
- Tianyu Liu,
- Tinglin Huang,
- Wengong Jin,
- Tinyi Chu,
- Rex Ying,
- and Hongyu Zhao
Genome Res. April 2026 36: 754-768; Published in Advance February 3, 2026, doi:10.1101/gr.281001.125
...means that the selected method met out-of-memory (OOM) errors in the specific data set. The methods are ranked by the Avg score for each data set, and we highlight the increment made by spRefine compared with the second-best baseline method. (B) The performance of batch effect correction based...
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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
...Accurate short-read alignment through r-index-based pan indexing Rahul Varki1,4, Massimiliano Rossi1,4, Eddie Ferro1, Marco Oliva1, Erik Garrison2, Ben Langmead3 and Christina Boucher1 1Department of Computer and Information Science and Engineering, University of Florida, Gainesville, Florida 32611...
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Method: Genotyping of selected germline adaptive immune system loci using short-read sequencing data
- Michael K.B. Ford,
- Ananth Hari,
- Meredith Yeager,
- Lisa Mirabello,
- Stephen Chanock,
- Ibrahim Numanagić,
- COVNET Consortium,
- and S. Cenk Sahinalp
Genome Res. September 2025 35: 2076-2086; Published in Advance August 5, 2025, doi:10.1101/gr.280314.124
...computational toolkit for genotyping the variable genes of the IG lambda and kappa, and the TR loci with short-read whole sequence data, using an integer linear programming formulation, as an update to the ImmunoTyper-SR suite, which focused on IGHV region only. We evaluate its genotyping performance using...
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Research: Integrating short-read and long-read single-cell RNA sequencing for comprehensive transcriptome profiling in mouse retina
- Meng Wang,
- Yumei Li,
- Jun Wang,
- Soo Hwan Oh,
- Yexuan Cao,
- and Rui Chen
Genome Res. April 2025 35: 740-754; Published in Advance March 6, 2025, doi:10.1101/gr.279167.124
...length for ONT was ∼1000 bp, corresponding to the average size of full-length transcripts. The average base call quality score was ∼12.5, corresponding to an estimated error rate of ∼5.6% (Supplemental Fig. S1).Cell clustering and annotation were initially conducted on the short-read scRNA-seq data set...
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Method: Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution
- Qian Qin,
- Victoria Popic,
- Kirsty Wienand,
- Houlin Yu,
- Emily White,
- Akanksha Khorgade,
- Asa Shin,
- Christophe Georgescu,
- Catarina D. Campbell,
- Arthur Dondi,
- Niko Beerenwinkel,
- Francisca Vazquez,
- Aziz M. Al'Khafaji,
- and Brian J. Haas
Genome Res. April 2025 35: 967-986; Published in Advance March 14, 2025, doi:10.1101/gr.279200.124
...short-read sequences. Recent advances in long-read isoform sequencing enable the detection of fusion transcripts at unprecedented resolution in bulk and single-cell samples. Here, we developed a new computational tool, CTAT-LR-Fusion, to detect fusion transcripts from long-read RNA-seq with or without...
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Research: A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
- Haloom Rafehi,
- Liam G. Fearnley,
- Justin Read,
- Penny Snell,
- Kayli C. Davies,
- Liam Scott,
- Greta Gillies,
- Genevieve C. Thompson,
- Tess A. Field,
- Aleena Eldo,
- Simon Bodek,
- Ernest Butler,
- Luke Chen,
- John Drago,
- Himanshu Goel,
- Anna Hackett,
- G. Michael Halmagyi,
- Andrew Hannaford,
- Katya Kotschet,
- Kishore R. Kumar,
- Smitha Kumble,
- Matthew Lee-Archer,
- Abhishek Malhotra,
- Mark Paine,
- Michael Poon,
- Kate Pope,
- Katrina Reardon,
- Steven Ring,
- Anne Ronan,
- Matthew Silsby,
- Renee Smyth,
- Chloe Stutterd,
- Mathew Wallis,
- John Waterston,
- Thomas Wellings,
- Kirsty West,
- Christine Wools,
- Kathy H.C. Wu,
- David J. Szmulewicz,
- Martin B. Delatycki,
- Melanie Bahlo,
- and Paul J. Lockhart
Genome Res. April 2025 35: 769-785; Published in Advance February 27, 2025, doi:10.1101/gr.279634.124
...A prospective trial comparing programmable targeted long-read sequencing and short-read sequencing for genetic diagnosis of cerebellar ataxia Haloom Rafehi1,2,43, Liam G. Fearnley1,2,43, Justin Read3,4,43, Penny Snell3, Kayli C. Davies3,5, Liam Scott1, Greta Gillies3, Genevieve C. Thompson3,5, Tess...
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Method: The Nubeam reference-free approach to analyze metagenomic sequencing reads
- Hang Dai and
- Yongtao Guan
Genome Res. September 2020 30: 1364-1375; Published in Advance September 3, 2020, doi:10.1101/gr.261750.120
...Hang Dai and Yongtao Guan Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, North Carolina 27707, USA Corresponding authors: yongtao.guan@duke.edu, hang.dai@duke.eduAbstractWe present Nubeam (nucleotide be a matrix) as a novel reference-free approach...
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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
...designed to detect small repeat units from relatively low-error-rate data such as short-read sequencing data. They often do not perform well with higher repeat lengths and/or lower frequencies. Other tools like DeepRepeat (Fang et al. 2022), tandem-genotypes (Mitsuhashi et al. 2019), and Expansion...
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Method: RNA-Bloom enables reference-free and reference-guided sequence assembly for single-cell transcriptomes
- Ka Ming Nip,
- Readman Chiu,
- Chen Yang,
- Justin Chu,
- Hamid Mohamadi,
- René L. Warren,
- and Inanc Birol
Genome Res. August 2020 30: 1191-1200; Published in Advance August 17, 2020, doi:10.1101/gr.260174.119
..., we developed RNA-Bloom, an assembly algorithm that leverages the rich information content aggregated from multiple single-cell transcriptomes to reconstruct cell-specific isoforms. Assembly with RNA-Bloom can be either reference-guided or reference-free, thus enabling unbiased discovery of novel...
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Method: Minerva: an alignment- and reference-free approach to deconvolve Linked-Reads for metagenomics
- David C. Danko,
- Dmitry Meleshko,
- Daniela Bezdan,
- Christopher Mason,
- and Iman Hajirasouliha
Genome Res. January 2019 29: 116-124; Published in Advance December 6, 2018, doi:10.1101/gr.235499.118
...is required, and the per base error rate is that of Illumina short-reads. In this paper, we formally describe a particular algorithmic issue common to Linked-Read technology: the deconvolution of reads with a single 3′ barcode into clusters that represent single long fragments of DNA. We introduce Minerva...
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