Searching journal content for articles similar to Weissensteiner et al. 27 (5): 697.

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Perspective: Unraveling the hidden complexity of cancer through long-read sequencing
- Qiuhui Li,
- Ayse G. Keskus,
- Justin Wagner,
- Michal B. Izydorczyk,
- Winston Timp,
- Fritz J. Sedlazeck,
- Alison P. Klein,
- Justin M. Zook,
- Mikhail Kolmogorov,
- and Michael C. Schatz
Genome Res. April 2025 35: 599-620; Published in Advance March 20, 2025, doi:10.1101/gr.280041.124
...conformation capture technique, identifies large-scale rearrangements by capturing the spatial proximity of genomic regions, and has been widely used for variant phasing and assembly (Liao et al. 2023). A recent study used a combination of long-read and Hi-C sequencing to reveal chromosome-scale structure...
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Mini-Review: A Hitchhiker's Guide to long-read genomic analysis
- Medhat Mahmoud,
- Daniel P. Agustinho,
- and Fritz J. Sedlazeck
Genome Res. April 2025 35: 545-558; doi:10.1101/gr.279975.124
...ONT's 2D and 1D2 technologies because they ceased production in 2016. The plot distinguishes between PacBio's continuous long read (CLR) and high fidelity (HiFi) technologies. (C) Comparison between short reads and long reads in variant calling accuracy, methylation calling, and assembly (Oehler et al...
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Research: Long-read genomics reveal extensive nuclear-specific evolution and allele-specific expression in a dikaryotic fungus
- Rita Tam,
- Mareike Möller,
- Runpeng Luo,
- Zhenyan Luo,
- Ashley Jones,
- Sambasivam Periyannan,
- John P. Rathjen,
- and Benjamin Schwessinger
Genome Res. June 2025 35: 1364-1376; Published in Advance April 11, 2025, doi:10.1101/gr.280359.124
...; Schwessinger et al. 2018). We leveraged high-accuracy Oxford Nanopore Technologies (ONT) duplex long reads to generate the first ONT-based T2T, fully nuclear-phased assembly for a dikaryotic fungus. We combined this with comprehensive ONT long-read cDNA data sets sampled during dormancy and host pathogenesis...
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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
...to difficulty in finding a long cycle of short, infrequent k-mers. Despite the promising potential of long reads in revealing novel disease-associated tandem repeats and in reconstructing full-length circRNAs, tools capable of managing high error rates are rare. Those currently available also struggle...
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Research: Long-read sequencing for non-small-cell lung cancer genomes
- Yoshitaka Sakamoto,
- Liu Xu,
- Masahide Seki,
- Toshiyuki T. Yokoyama,
- Masahiro Kasahara,
- Yukie Kashima,
- Akihiro Ohashi,
- Yoko Shimada,
- Noriko Motoi,
- Katsuya Tsuchihara,
- Susumu S. Kobayashi,
- Takashi Kohno,
- Yuichi Shiraishi,
- Ayako Suzuki,
- and Yutaka Suzuki
Genome Res. September 2020 30: 1243-1257; Published in Advance September 4, 2020, doi:10.1101/gr.261941.120
...reported the precise analysis of complicated genomic regions, and large-scale aberration detection is enabled by long-read sequencing. For example, a single-molecule real-time (SMRT) sequencer, Pacific Biosciences (PacBio) RS, has been used to analyze BCR-ABL1 rearranged transcripts and their TKI...
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Method: Long-read single-molecule maps of the functional methylome
- Hila Sharim,
- Assaf Grunwald,
- Tslil Gabrieli,
- Yael Michaeli,
- Sapir Margalit,
- Dmitry Torchinsky,
- Rani Arielly,
- Gil Nifker,
- Matyas Juhasz,
- Felix Gularek,
- Miguel Almalvez,
- Brandon Dufault,
- Sreetama Sen Chandra,
- Alexander Liu,
- Surajit Bhattacharya,
- Yi-Wen Chen,
- Eric Vilain,
- Kathryn R. Wagner,
- Jonathan Pevsner,
- Jeff Reifenberger,
- Ernest T. Lam,
- Alex R. Hastie,
- Han Cao,
- Hayk Barseghyan,
- Elmar Weinhold,
- and Yuval Ebenstein
Genome Res. April 2019 29: 646-656; Published in Advance March 7, 2019, doi:10.1101/gr.240739.118
...of medium-scale SVs and repeats (Yang et al. 2015; Morioka et al. 2016; Suzuki et al. 2016; Rand et al. 2017; Simpson et al. 2017). However, third-generation sequencing methods suffer from relatively low throughput. Consequently, although these methods allow long-read WGBS and present the potential...
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Method: k-mer cross-species profiling reveals taxon-specific TE expansions accompanied by KZFP co-option and functional impacts in ruminants
- Pengju Zhao,
- Jiayi He,
- Chen Peng,
- Yuelang Zhang,
- Chong Wang,
- Dongyou Yu,
- Lingzhao Fang,
- and Zhengguang Wang
Genome Res. March 23, 2026 gr.281289.125; Published in Advance March 23, 2026, doi:10.1101/gr.281289.125
...an integrated dual-methodology framework combining de novo discovery with 518 homology-based classification. Initially, de novo prediction was executed using 519 LongRepMarker (v2.0) (Liao et al. 2021), leveraging its optimized algorithms to identify 520 novel repeats without a priori references. Subsequently...
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Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- Terence Gall-Duncan,
- Nozomu Sato,
- Ryan K.C. Yuen,
- and Christopher E. Pearson
Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
...of repeat expansions (Trost et al. 2020). Even more recently, in a 2019 study, biallelic expansions of an (AAGGG)N repeat in the intron of RFC1 were identified as responsible for cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) by a similar method—visual analysis of assembled short-read...
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Research: The motif composition of variable number tandem repeats impacts gene expression
- Tsung-Yu Lu,
- Paulina N. Smaruj,
- Geoffrey Fudenberg,
- Nicholas Mancuso,
- and Mark J.P. Chaisson
Genome Res. April 2023 33: 511-524; Published in Advance April 10, 2023, doi:10.1101/gr.276768.122
...from short-read data, it is known that VNTRs vary in both length and repeat (motif) composition. Here, we use a repeat-pan graph (RPGG) constructed on 35 haplotype-resolved assemblies to detect variation in both VNTR length and repeat composition. We align population-scale data from the Genotype...
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Resource: Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- Valerie A. Schneider,
- Tina Graves-Lindsay,
- Kerstin Howe,
- Nathan Bouk,
- Hsiu-Chuan Chen,
- Paul A. Kitts,
- Terence D. Murphy,
- Kim D. Pruitt,
- Françoise Thibaud-Nissen,
- Derek Albracht,
- Robert S. Fulton,
- Milinn Kremitzki,
- Vincent Magrini,
- Chris Markovic,
- Sean McGrath,
- Karyn Meltz Steinberg,
- Kate Auger,
- William Chow,
- Joanna Collins,
- Glenn Harden,
- Timothy Hubbard,
- Sarah Pelan,
- Jared T. Simpson,
- Glen Threadgold,
- James Torrance,
- Jonathan M. Wood,
- Laura Clarke,
- Sergey Koren,
- Matthew Boitano,
- Paul Peluso,
- Heng Li,
- Chen-Shan Chin,
- Adam M. Phillippy,
- Richard Durbin,
- Richard K. Wilson,
- Paul Flicek,
- Evan E. Eichler,
- and Deanna M. Church
Genome Res. May 2017 27: 849-864; Published in Advance April 10, 2017, doi:10.1101/gr.213611.116
...relevant loci. We additionally evaluated a collection of new de novo long-read haploid assemblies and conclude that although the new assemblies compare favorably to the reference with respect to continuity, error rate, and gene completeness, the reference still provides the best representation for complex...
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