Searching journal content for articles similar to Thompson et al. 22 (2): 340.

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  1. Method: Single-cell Rapid Capture Hybridization sequencing reliably detects isoform usage and coding mutations in targeted genes
    • Hongke Peng,
    • Jafar S. Jabbari,
    • Luyi Tian,
    • Changqing Wang,
    • Yupei You,
    • Chong Chyn Chua,
    • Natasha S. Anstee,
    • Noorul Amin,
    • Andrew H. Wei,
    • Nadia M. Davidson,
    • Andrew W. Roberts,
    • David C.S. Huang,
    • Matthew E. Ritchie,
    • and Rachel Thijssen
    Genome Res. April 2025 35: 942-955; Published in Advance January 10, 2025, doi:10.1101/gr.279322.124
    ...and indexed single-cell cDNA, which allows analysis to be combined with existing short-read RNA-seq data sets. In our investigation of BTK and SF3B1 genes in samples from patients with chronic lymphocytic leukemia (CLL), we detect SF3B1 isoforms and mutations with high sensitivity. Integration with short...
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  2. Method: The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms
    • Daffodil M. Canson,
    • Michael T. Parsons,
    • Gemma Moir-Meyer,
    • Troy Dumenil,
    • Gemma Montalban,
    • Erica Lin,
    • Terri P. McVeigh,
    • Aimee L. Davidson,
    • Shaun M. Bouckaert,
    • Matt Trau,
    • Darren Korbie,
    • and Amanda B. Spurdle
    Genome Res. September 2025 35: 2104-2115; Published in Advance August 6, 2025, doi:10.1101/gr.279557.124
    ...experiment using a BRCA1 c.188T>C variant construct to assess reproducibility of transcript identification and abundance across a range of cDNA template input amounts and PCR cycles.Within this experiment, additional reads mapping to unexpected sequences were also identified. For both sample sets shown...
  3. Research: Assessing DNA methylation detection for primary human tissue using Nanopore sequencing
    • Rylee Genner,
    • Stuart Akeson,
    • Melissa Meredith,
    • Pilar Alvarez Jerez,
    • Laksh Malik,
    • Breeana Baker,
    • Abigail Miano-Burkhardt,
    • CARD-long-read Team,
    • Benedict Paten,
    • Kimberley J. Billingsley,
    • Cornelis Blauwendraat,
    • and Miten Jain
    Genome Res. April 2025 35: 632-643; Published in Advance March 7, 2025, doi:10.1101/gr.279159.124
    ...frontal cortex brain tissue for population-scale Oxford Nanopore long-read DNA sequencing SOP v2. https://www.protocols.io/view/processing-human-frontal-cortex-brain-tissue-for-p-b6evrbe6. ↵Bird AP. 1986. CpG-rich islands and the function of DNA methylation. Nature 321: 209–213. doi:10.1038/321209a0...
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  4. Method: Tissular chromatin-state cartography based on double-barcoded DNA arrays that capture unloaded PA-Tn5 transposase
    • Maria Grazia Mendoza-Ferri,
    • Gwendoline Lozachmeur,
    • Maximilien Duvina,
    • Laetitia Perret,
    • Didier Merciris,
    • Anne Gigout,
    • and Marco Antonio Mendoza-Parra
    Genome Res. July 2025 35: 1633-1645; Published in Advance May 13, 2025, doi:10.1101/gr.280305.124
    ...by magnesium chloride, leading to the formation of hairpin-like DNA structures. (E) Scheme illustrating the molecular biology steps required for generating a copy of the genomic DNA captured by the DNA probes, followed by their amplification for Illumina massive parallel DNA sequencing.Printed DNA arrays...
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  5. Method: Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling
    • Li-Ting Chen,
    • Myrthe Jager,
    • Dàmi Rebergen,
    • Geertruid J. Brink,
    • Tom van den Ende,
    • Willem Vanderlinden,
    • Pauline Kolbeck,
    • Marc Pagès-Gallego,
    • Ymke van der Pol,
    • Nicolle Besselink,
    • Norbert Moldovan,
    • Nizar Hami,
    • Wigard P. Kloosterman,
    • Hanneke van Laarhoven,
    • Florent Mouliere,
    • Ronald Zweemer,
    • Jan Lipfert,
    • Sarah Derks,
    • Alessio Marcozzi,
    • and Jeroen de Ridder
    Genome Res. April 2025 35: 886-899; Published in Advance January 13, 2025, doi:10.1101/gr.279144.124
    ..., subclonal expansions of hematopoietic cells are known to contribute to false positive detection of tumor driver mutations and the presence of cancer (Hu et al. 2018; Razavi et al. 2019).It has been proposed that -wide sequencing of cfDNA is a way to circumvent these limitations (Zviran et al. 2020...
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  6. Research: Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations
    • Alicja Pacholewska,
    • Matthias Lienhard,
    • Mirko Brüggemann,
    • Heike Hänel,
    • Lorina Bilalli,
    • Anja Königs,
    • Felix Heß,
    • Kerstin Becker,
    • Karl Köhrer,
    • Jesko Kaiser,
    • Holger Gohlke,
    • Norbert Gattermann,
    • Michael Hallek,
    • Carmen D. Herling,
    • Julian König,
    • Christina Grimm,
    • Ralf Herwig,
    • Kathi Zarnack,
    • and Michal R. Schweiger
    Genome Res. November 2024 34: 1832-1848; Published in Advance September 13, 2024, doi:10.1101/gr.279327.124
    ...that the effect of the SF3B1 mutation persists in an unrelated cell line. In the two remaining cases (TPP2 and BRCA1), the usage of the upstream AG′ was already low in the validation assays using the K562 and Nalm6 cell line pairs (Supplemental Fig. S24).Overall, these results supported a common effect of SF3B1...
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  7. Method: De novo detection of somatic variants in high-quality long-read single-cell RNA sequencing data
    • Arthur Dondi,
    • Nico Borgsmüller,
    • Pedro F. Ferreira,
    • Brian J. Haas,
    • Francis Jacob,
    • Viola Heinzelmann-Schwarz,
    • Tumor Profiler Consortium,
    • and Niko Beerenwinkel
    Genome Res. April 2025 35: 900-913; Published in Advance March 19, 2025, doi:10.1101/gr.279281.124
    ...is usually deemed more appropriate for detecting known mutations than detecting variants de novo (Teer et al. 2017). For scRNA-seq, SComatic (Muyas et al. 2024) was developed to call variants de novo without matched DNA-seq normal, leveraging noncancer microenvironment cells in the tumor biopsy...
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  8. Method: Analysis of coding gene expression from small RNA sequencing
    • Aygun Azadova,
    • Anthonia Ekperuoh,
    • Greg N. Brooke,
    • and Antonio Marco
    Genome Res. March 2026 36: 611-618; Published in Advance February 10, 2026, doi:10.1101/gr.281364.125
    ...a sample, reverse-transcribing it into stable cDNA, and finally sequencing using (mostly) Illumina technology (Bentley et al. 2008). RNA-seq has multiple technical variations, either to identify specific types of transcripts or to characterize other RNA products. For instance, small RNA sequencing (s...
  9. Resource: A map of enhancer regions in primary human neural progenitor cells using capture STARR-seq
    • Sophia C. Gaynor-Gillett,
    • Lijun Cheng,
    • Manman Shi,
    • Jason Liu,
    • Gaoyuan Wang,
    • Megan Spector,
    • Qiuyu Guo,
    • Le Qi,
    • Mary Flaherty,
    • Martha Wall,
    • Ahyeon Hwang,
    • Mengting Gu,
    • Zhanlin Chen,
    • Yuhang Chen,
    • PsychENCODE Consortium,
    • Jennifer R. Moran,
    • Jing Zhang,
    • Donghoon Lee,
    • Mark Gerstein,
    • Daniel Geschwind,
    • and Kevin P. White
    Genome Res. August 2025 35: 1887-1901; Published in Advance July 11, 2025, doi:10.1101/gr.279584.124
    ...in a final panel size of 22,314 regions for Panel 1 and 48,507 regions for Panel 2. The software then designed KAPA Target Enrichment Probes covering the inputted regions. These probes are 120 bp in length and, following hybridization with genomic DNA, can be captured through a bead-based capture method...
  10. Research: Assessing the readiness of Oxford Nanopore sequencing for clinical genomics applications
    • Judith Arres,
    • Santosh Elavalli,
    • Shalini Behl,
    • Daniel Matias Sanchez,
    • Ayesha Al Ali,
    • Abdelrahman Ahmed Yehia Abdelaziz Saad,
    • Azza Attia,
    • Cyla Minas,
    • Sharika Pariyachery,
    • Shariq Ahmed,
    • Fatmah Aldhuhoori,
    • Nitu Thulasidharan,
    • Gurunath Katagi,
    • Omar Soliman,
    • Shilp Purohit,
    • Vinay Kusuma,
    • Raony Cardenas,
    • Thyago Cardoso,
    • Luis F. Paulin,
    • Philippe Sanio,
    • Joseph Mafofo,
    • Haiguo Wu,
    • Val Zvereff,
    • Albarah El-Khani,
    • Fahed Al Marzooqi,
    • Tiago R. Magalhães,
    • Fritz J. Sedlazeck,
    • and Javier Quilez
    Genome Res. March 2026 36: 460-471; Published in Advance February 11, 2026, doi:10.1101/gr.280134.124
    ...://github.com/nanoporetech/dorado), extracting both DNA sequence and 5mC methylation signals during basecalling. We then perform, in the cloud (a high-performance computing platform), mapping to the reference sequence using Sentieon-accelerated minimap2 (https://www.sentieon.com/), followed by variant calling with Clair3 for SNVs and indels...
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