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Research: Modest increase in the de novo single-nucleotide mutation rate in house mice born by assisted reproduction
- Laura Blanco-Berdugo,
- Alexis Garretson,
- and Beth L. Dumont
Genome Res. January 2026 36: 50-60; Published in Advance November 13, 2025, doi:10.1101/gr.281180.125
...transfer) affects stability. Age-matched cohorts of 12 ART-derived and 16 naturally conceived C57BL/6J inbred mice were reared in a controlled setting and whole--sequenced to ∼50× coverage. Using a rigorous pipeline for de novo single-nucleotide variant (dnSNV) discovery, we observe a ∼30% (95% CI: 4...
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Research: The rate and spectrum of new mutations in mice inferred by long-read sequencing
- Eugenio López-Cortegano,
- Jobran Chebib,
- Anika Jonas,
- Anastasia Vock,
- Sven Künzel,
- Peter D. Keightley,
- and Diethard Tautz
Genome Res. January 2025 35: 43-54; Published in Advance December 2, 2024, doi:10.1101/gr.279982.124
...of de novo structural variation in mammals (e.g., Kloosterman et al. 2015; Belyeu et al. 2021; Steensma et al. 2023), but these studies have employed short-read technology, which limits the SMs detected primarily to copy-number variants and hinders the discovery of mutations within repetitive sequences...
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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
...identified by comparing variants from tumor biopsies with those from matched normal biopsies derived from respective healthy tissue. However, as matched normals are rarely available, methods to detect somatic variants de novo were developed for bulk sequencing, mainly relying on germline variant allele...
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Research: Strong bias in long-read sequencing prevents assembly of Drosophila melanogaster Y-linked genes
- A. Bernardo Carvalho,
- Bernard Y. Kim,
- and Fabiana Uno
Genome Res. January 2026 36: 71-82; Published in Advance October 1, 2025, doi:10.1101/gr.280604.125
...in PacBio and the displaced strand that is not traveling through the pore in ONT) that can fold back and associate with the duplex DNA, without supercoiling. It is also likely that a triple-helix DNA forming just ahead of the “active site” of sequencing (the DNA polymerase or the pore) would disturb...
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Research: Extensive variation in germline de novo mutations in Poecilia reticulata
- Yuying Lin,
- Iulia Darolti,
- Wouter van der Bijl,
- Jake Morris,
- and Judith E. Mank
Genome Res. August 2023 33: 1317-1324; Published in Advance July 13, 2023, doi:10.1101/gr.277936.123
...:10.1038/nrg3483 ↵Tatsumoto S, Go Y, Fukuta K, Noguchi H, Hayakawa T, Tomonaga M, Hirai H, Matsuzawa T, Agata K, Fujiyama A. 2017. Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole sequencing. Sci Rep 7: 13561. doi:10.1038/s41598-017-13919-7 ↵Thomas...
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Review: De novo gene birth and the conundrum of ORFan genes in bacteria
- Md. Hassan uz-Zaman and
- Howard Ochman
Genome Res. August 2025 35: 1679-1688; Published in Advance July 10, 2025, doi:10.1101/gr.280157.124
...inert status confirmed by the lack of a start codon and/or interruption by stop codons or frameshift mutations.Note that the mere presence of a homologous noncoding sequence in an outgroup is not sufficient to establish a de novo origin of the ORFan because it is possible that the outgroup sequence...
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Method: Multisample motif discovery and visualization for tandem repeats
- Yaran Zhang,
- Marc Hulsman,
- Alex Salazar,
- Niccolò Tesi,
- Lydian Knoop,
- Sven van der Lee,
- Sanduni Wijesekera,
- Jana Krizova,
- Erik-Jan Kamsteeg,
- and Henne Holstege
Genome Res. April 2025 35: 850-862; Published in Advance November 13, 2024, doi:10.1101/gr.279278.124
...interrupted repeats (Rafehi et al. 2023).Here, we present MotifScope, a flexible toolkit for motif annotation and visualization of TRs from sequencing data, that uses a de novo k-mer-based approach for motif discovery. To evaluate MotifScope performances, we compared it to the three existing tools for motif...
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Method: Ultra-long sequencing for contiguous haplotype resolution of the human immunoglobulin heavy-chain locus
- Mari B. Gornitzka,
- Egil Røsjø,
- Uddalok Jana,
- Easton E. Ford,
- Alan Tourancheau,
- William D. Lees,
- Zachary Vanwinkle,
- Melissa L. Smith,
- Corey T. Watson,
- and Andreas Lossius
Genome Res. October 2025 35: 2240-2251; Published in Advance August 21, 2025, doi:10.1101/gr.280400.125
...a challenge for de novo assembly, especially in cases with high sequence similarity between duplicated segments. These SVs are particularly common at this locus, making it crucial to evaluate the assembly and correct any inaccuracies. To ensure the quality of our IGH assemblies, we employed several strategies...
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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
...in the reference sequence are publicly available.Both SRS and LRS precisely detected the expected three disease-causing SNVs evaluated (Table 1B; Supplemental Table S7). In GM27630, mental retardation autosomal-dominant (MRD40) is caused by a de novo c.2127T > G (p.Tyr709*) pathogenic dominant mutation, which...
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Research: Nanopore direct RNA sequencing reveals METTL2A-mediated m³C sites in poly(A) RNA
- Shuhei Mitsutomi,
- Anzu Sugawara,
- Masahide Seki,
- Yutaka Suzuki,
- Sotaro Miyao,
- Haozhe Du,
- Kenji Takahashi,
- Yusuke Mizukami,
- Kenzui Taniue,
- and Nobuyoshi Akimitsu
Genome Res. November 2025 35: 2406-2417; Published in Advance October 30, 2025, doi:10.1101/gr.280269.124
...isoforms representing more than 1% of the reads for the gene are shown.To further investigate the direct connection between m3C sites and isoform expression, we generated a mutant cell line in which the m3C sites near the S100A4 exon junction were mutated to other bases using CRISPR. Sanger sequencing...

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