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Method: Mapping and quantifying nascent transcript start sites using TT-TSS-seq
- Eleanor Elgood Hunt,
- Claudia Vivori,
- Richard Mitter,
- Vedis Agnadottir,
- and Folkert J. van Werven
Genome Res. March 2026 36: 600-610; Published in Advance February 17, 2026, doi:10.1101/gr.280726.125
...transcripts compared to stable ones (Core et al. 2014). In contrast, the TSSs detected here using scaRNA-seq did not show a preference for a dinucleotide combination (Fig. 3C).We conclude that TT-TSS-seq is suitable for mapping and quantifying transcription initiation sites. The TSSs detected by sca...
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Method: Aberrant landscapes of maternal meiotic crossovers contribute to aneuploidies in human embryos
- Daniel Ariad,
- Svetlana Madjunkova,
- Mitko Madjunkov,
- Siwei Chen,
- Rina Abramov,
- Clifford Librach,
- and Rajiv C. McCoy
Genome Res. January 2024 34: 70-84; Published in Advance December 1, 2023, doi:10.1101/gr.278168.123
....e., “exchangeless homologs”) of recombination contributes to aneuploidy risk (Hassold and Hunt 2021; Hassold et al. 2021), we note that they may be partially driven by a failure of our method to detect crossovers on reciprocal recombinant chromosomes—a limitation that uniquely applies to trisomies but not disomies...
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Method: Quantifying pathological progression from single-cell transcriptomic data with scPSS
- Samin Rahman Khan,
- M Saifur Rahman,
- M. Sohel Rahman,
- and Md Abul Hassan Samee
Genome Res. February 2026 36: 375-386; Published in Advance January 14, 2026, doi:10.1101/gr.280411.125
...and reference atlases has enabled the comparison of cell states across conditions, yet a gap persists in quantifying pathological shifts from healthy cell states. To address this gap, we introduce single-cell Pathological Shift Scoring (scPSS), which provides a statistical measure for how much a “query” cell...
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Research: Ancestral aneuploidy and stable chromosomal duplication resulting in differential genome structure and gene expression control in trypanosomatid parasites
- João L. Reis-Cunha,
- Samuel A. Pimenta-Carvalho,
- Laila V. Almeida,
- Anderson Coqueiro-dos-Santos,
- Catarina A. Marques,
- Jennifer A. Black,
- Jeziel Damasceno,
- Richard McCulloch,
- Daniella C. Bartholomeu,
- and Daniel C. Jeffares
Genome Res. March 2024 34: 441-453; Published in Advance April 11, 2024, doi:10.1101/gr.278550.123
...Ancestral aneuploidy and stable chromosomal duplication resulting in differential structure and gene expression control in trypanosomatid parasites João L. Reis-Cunha1,5, Samuel A. Pimenta-Carvalho2,5, Laila V. Almeida2, Anderson Coqueiro-dos-Santos2, Catarina A. Marques3, Jennifer A. Black3...
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Research: A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
- Jesper Eisfeldt,
- Adam Ameur,
- Felix Lenner,
- Esmee Ten Berk de Boer,
- Marlene Ek,
- Josephine Wincent,
- Raquel Vaz,
- Jesper Ottosson,
- Tord Jonson,
- Sofie Ivarsson,
- Sofia Thunström,
- Alexandra Topa,
- Simon Stenberg,
- Anna Rohlin,
- Anna Sandestig,
- Margareta Nordling,
- Pia Palmebäck,
- Magnus Burstedt,
- Frida Nordin,
- Eva-Lena Stattin,
- Maria Sobol,
- Panagiotis Baliakas,
- Marie-Louise Bondeson,
- Ida Höijer,
- Kristine Bilgrav Saether,
- Lovisa Lovmar,
- Hans Ehrencrona,
- Malin Melin,
- Lars Feuk,
- and Anna Lindstrand
Genome Res. November 2024 34: 1774-1784; Published in Advance October 29, 2024, doi:10.1101/gr.279510.124
...that were present in the 16 individuals sequenced. Of the two rearrangements that fully eluded detection, one was mosaic (P10) and the second affected the acrocentric p-arm of Chromosome 21, a known repetitive genomic region (P13) (Table 1). The mosaic tri- and tetrasomy on Chromosome 15 in individual P2...
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Method: Detecting m6A RNA modification from nanopore sequencing using a semisupervised learning framework
- Haotian Teng,
- Marcus Stoiber,
- Ziv Bar-Joseph,
- and Carl Kingsford
Genome Res. November 2024 34: 1987-1999; Published in Advance October 15, 2024, doi:10.1101/gr.278960.124
...pipeline established in our work facilitates supervised basecaller training without necessitating complex feature engineering and using both IVT and IP data available to overcome overfitting.Quantifying the transcriptome-wide modification rates is one of the key challenges in methylation detection. From...
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Method: Quantifying full-length circular RNAs in cancer
- Ken Hung-On Yu,
- Christina Huan Shi,
- Bo Wang,
- Savio Ho-Chit Chow,
- Grace Tin-Yun Chung,
- Raymond Wai-Ming Lung,
- Ke-En Tan,
- Yat-Yuen Lim,
- Anna Chi-Man Tsang,
- Kwok-Wai Lo,
- and Kevin Y. Yip
Genome Res. December 2021 31: 2340-2353; Published in Advance October 18, 2021, doi:10.1101/gr.275348.121
...) and binding sites of RNA-binding proteins, it is critical to resolve full-length circRNA sequences and quantify their expression levels (Gao and Zhao 2018).Most existing circRNA detection methods can only identify BSJs but cannot determine full-length circular transcripts. Some other methods can either infer...
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Method: Large-scale detection and characterization of inter-chromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets
- Jeanlin Jourdain,
- Harmonie Barasc,
- Thomas Faraut,
- Anne Calgaro,
- Nathalie Bonnet,
- Camille Marcuzzo,
- Amandine Suin,
- Anne Barbat,
- Chris Hozé,
- Florian Besnard,
- Sébastien Taussat,
- Cécile Grohs,
- Claire Kuchly,
- Carole Iampietro,
- Cécile Donnadieu,
- Alain Pinton,
- Didier Boichard,
- and Aurélien Capitan
Genome Res. July 6, 2023 ; Published in Advance July 6, 2023, doi:10.1101/gr.277787.123
...PhySE, Université de Toulouse, INRAE, ENVT, 31320 Castanet-Tolosan, France; 4INRAE, US 1426, GeT-PlaGe, Genotoul, France Génomique, Université Fédérale de Toulouse, 31320 Castanet-Tolosan, France; 5Idele, 75012 Paris, France In this paper, we developed a highly sensitive approach to detect inter-chromosomal...
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Method: A universal framework for detecting cis-regulatory diversity in DNA regions
- Anushua Biswas and
- Leelavati Narlikar
Genome Res. September 2021 31: 1646-1662; Published in Advance July 19, 2021, doi:10.1101/gr.274563.120
...for differential enrichment of established fly promoter motifs. Here we have treated all regions together and note that the detected modules encode information about both motif enrichment and transcriptional activity. Modules characterized by the TATA box, INR, and DPE are significantly enriched with narrow...
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Method: Correcting signal biases and detecting regulatory elements in STARR-seq data
- Young-Sook Kim,
- Graham D. Johnson,
- Jungkyun Seo,
- Alejandro Barrera,
- Thomas N. Cowart,
- William H. Majoros,
- Alejandro Ochoa,
- Andrew S. Allen,
- and Timothy E. Reddy
Genome Res. May 2021 31: 877-889; Published in Advance March 15, 2021, doi:10.1101/gr.269209.120
...activity across the human has been the development of high-throughput reporter assays such as STARR-seq (Arnold et al. 2013) that allow regulatory element activity to be quantified with high-throughput sequencing rather than with optical detection of a fluorescent or luminescent signal...
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