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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
...: a program to analyze DNA sequences. Nucleic Acids Res 27: 573–580. doi:10.1093/nar/27.2.573 ↵Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PWJ, Meyer T, Schulte C, Gasser T, et al. 2012. NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis...
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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
...has historically been hindered by the lack of tools. Many genomic studies utilize short-read-based whole- sequencing (WGS) but exclude half of the data with RepeatMasker, a tool that identifies repetitive DNA sequences for removal. Currently, >56% of the human is removed with RepeatMasker (Nishimura...
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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
...al. 2023). While those reads are removed from transcript counts, they are valuable to call SNVs in scRNA-seq (as they come from same-cell DNA) and they can explain the large fraction of intronic variants we observed. A whole- sequencing (WGS) study of a cohort of 962 individuals (Morrison et al. 2013...
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Method: Contrasting and combining transcriptome complexity captured by short and long RNA sequencing reads
- Seong Woo Han,
- San Jewell,
- Andrei Thomas-Tikhonenko,
- and Yoseph Barash
Genome Res. October 2024 34: 1624-1635; Published in Advance September 25, 2024, doi:10.1101/gr.278659.123
...sequencing technology: random primed, dUTP stranded protocol for Illumina versus a template switching one, which is the standard long-read cDNA protocol. Although direct RNA sequencing protocols are available and have been shown to avoid RT artifacts such as “falsitrons” (Schulz et al. 2021), the length...
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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
...-cell library may not recapitulate the diversity present in the population. The authors enriched and sequenced these regions via a method called Repertoire and Gene Expression by Sequencing (RAGE-seq). This method splits a full-length cDNA pool into two, where one half undergoes short-read expression profiling...
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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
.../or neuromuscular outcomes. They occur when a segment of repetitive DNA, termed a short tandem repeat (STR), expands beyond a gene-specific threshold. STR is composed of tandem arrays of 1–12 bp sequence motifs and constitute ∼6% of the human (Willems et al. 2014; Mousavi et al. 2019). To date, the genetic basis...
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Method: DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools
- Anupama Jha,
- Stephanie C. Bohaczuk,
- Yizi Mao,
- Jane Ranchalis,
- Benjamin J. Mallory,
- Alan T. Min,
- Morgan O. Hamm,
- Elliott Swanson,
- Danilo Dubocanin,
- Connor Finkbeiner,
- Tony Li,
- Dale Whittington,
- William Stafford Noble,
- Andrew B. Stergachis,
- and Mitchell R. Vollger
Genome Res. November 2024 34: 1976-1986; Published in Advance June 7, 2024, doi:10.1101/gr.279095.124
..., Seattle, Washington 98195, USA ↵8 These authors contributed equally to this work. Corresponding authors: absterga@uw.edu, mvollger@uw.eduAbstractLong-read DNA sequencing has recently emerged as a powerful tool for studying both genetic and epigenetic architectures at single-molecule and single...
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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
...their cDNA, or in the case of ONT, the option of direct RNA sequencing. Early applications of these technologies have been constrained due to low throughput and high error rates. Recent advances in both long-read platforms have enabled high-throughput long-read transcriptome sequencing at high sequencing...
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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
...and housed by the Baylor College of Medicine Center for Comparative Medicine. Adult mice were euthanized using CO2 gas and isoflurane asphyxiation for 5 min, followed by cervical dislocation.Single-cell cDNA library preparation and Illumina short-read sequencingSamples and scRNA-seq cDNA and library...
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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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