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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
...memory usage. LongTR is the most memory-efficient STR caller for the GIAB trio samples sequenced with both ONT sequencing data sets.Read-level genotyping of targeted LRS data captures known instability in a pathogenic expansionWe ran STRkit and other tandem repeat callers on targeted CCS sequencing data...
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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
...including targeted RT-PCR analysis and RNA sequencing-based tests (Casadei et al. 2019; Wai et al. 2020; Bournazos et al. 2022). Bioinformatic splicing predictions and RNA splicing assay data are then used as evidence in variant pathogenicity assessment models, including the widely adopted American College...
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Review: Leveraging the power of long reads for targeted sequencing
- Shruti V. Iyer,
- Sara Goodwin,
- and William Richard McCombie
Genome Res. November 2024 34: 1701-1718; doi:10.1101/gr.279168.124
...-read target enrichment (Hodges et al. 2007; Turner et al. 2009; Mertes et al. 2011; Altmüller et al. 2014; Ballester et al. 2016) and typically rely on multiplexed PCR amplification (Jones et al. 2008; Tewhey et al. 2009) or oligonucleotide-based DNA hybridization capture (Albert et al. 2007; Hodges et al...
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Research: Accurate genotyping of three major respiratory bacterial pathogens with ONT R10.4.1 long-read sequencing
- Nora Zidane,
- Carla Rodrigues,
- Valérie Bouchez,
- Martin Rethoret-Pasty,
- Virginie Passet,
- Sylvain Brisse,
- and Chiara Crestani
Genome Res. August 2025 35: 1758-1766; Published in Advance June 2, 2025, doi:10.1101/gr.279829.124
...when multiplexing) (Sanderson et al. 2024), and the ability to circularize chromosomes and plasmids owing to its long-read nature (Lerminiaux et al. 2024). It also provides options for real-time sequencing and rapid library preparation, essential for quick outbreak responses (Wagner et al. 2023). Early...
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Method: A versatile type VI CRISPR-based approach for targeted m⁶A demethylation in mRNAs
- Panagiotis G. Adamopoulos,
- Konstantina Athanasopoulou,
- and Andreas Scorilas
Genome Res. January 2026 36: 169-182; Published in Advance December 11, 2025, doi:10.1101/gr.280476.125
...fused to the major m6A “eraser” ALKBH5 (dCas13d-ALKBH5). The presented approach enhances flexibility and efficiency by allowing rapid targeting of diverse m6A-modified mRNA transcripts through a simplified gRNA cloning workflow. Dem6A-Vec is designed to facilitate investigations into the functional...
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Method: High-fidelity, large-scale targeted profiling of microsatellites
- Caitlin A. Loh,
- Danielle A. Shields,
- Adam Schwing,
- and Gilad D. Evrony
Genome Res. July 2024 34: 1008-1026; Published in Advance July 16, 2024, doi:10.1101/gr.278785.123
...of microsatellites incur significant “stutter” artifacts that interfere with accurate genotyping, and sequencing costs preclude whole- microsatellite profiling of a large number of samples. We developed a novel method for accurate and cost-effective targeted profiling of a panel of more than 150,000 microsatellites...
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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
...-throughput single-cell multiomic methods to enhance our understanding of cancer complexity led us to develop a method that can flexibly link genotypes in single cells to preexisting short-read transcriptome data generated by various 10x Genomics protocols. CITE-seq combines transcriptome with cell surface protein...
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Method: Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information
- Zhoutao Chen,
- Long Pham,
- Tsai-Chin Wu,
- Guoya Mo,
- Yu Xia,
- Peter L. Chang,
- Devin Porter,
- Tan Phan,
- Huu Che,
- Hao Tran,
- Vikas Bansal,
- Justin Shaffer,
- Pedro Belda-Ferre,
- Greg Humphrey,
- Rob Knight,
- Pavel Pevzner,
- Son Pham,
- Yong Wang,
- and Ming Lei
Genome Res. June 2020 30: 898-909; Published in Advance June 15, 2020, doi:10.1101/gr.260380.119
...for application of phasing small targeted genes.We present an easy-to-use and easy-to-automate single-tube linked-read library method that can cost-effectively generate long-range information from short-read NGS systems. The lengths of many linked molecules generated from sub-nanogram to nanogram input material...
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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
...duplication, structural variation, and high sequence similarity between gene copies, has historically made them challenging targets for genotyping studies using standard short-read WGS approaches. Despite their critical functional role in adaptive immunity and their documented associations with various...
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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
...pathogenic RE. Alternative physical enrichment technologies that do not require PCR amplification have been developed, including CRISPR–Cas9 enrichment. However, these enrichment approaches are bespoke, difficult to multiplex, and are limited to ∼50 targets per library preparation. Recently, the development...

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