Searching journal content for articles similar to Weisenfeld et al. 27 (5): 757.

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Method: Minimizing reference bias with an imputed personalized reference
- Kavya Vaddadi,
- Mao-Jan Lin,
- Sina Majidian,
- Taher Mun,
- and Ben Langmead
Genome Res. April 2026 36: 740-753; Published in Advance March 5, 2026, doi:10.1101/gr.280989.125
...sequencing data analyses.DiscussionWe introduced a practical impute-first approach for genomic analysis with the goal of minimizing reference bias, even beyond what can be achieved with pan references. The workflow includes initial genotyping and genotype imputation steps, which produce a diploid...
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Research: Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
- Kristine Bilgrav Saether,
- Angelo Salazar Mantero,
- Marlene Ek,
- Maria Pettersson,
- Elisabeth Syk Lundberg,
- Christopher M. Grochowski,
- Claudia M.B. Carvalho,
- Jesper Eisfeldt,
- and Anna Lindstrand
Genome Res. April 2026 36: 661-670; Published in Advance March 25, 2026, doi:10.1101/gr.281175.125
...resolution, as well as to identify their chromosomal origin and formation mechanism. Here, we apply long-read sequencing (lrGS) in combination with the telomere-to-telomere (T2T-CHM13) assembly to characterize the structure and genomic content of 10 clinically detected sSMCs. We use sequencing data...
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Method: Parallel analysis of replication timing, gene expression, and copy number with PARTAGE
- Lakshana Sruthi Sadu Murari,
- Quinn Dickinson,
- Silvia Meyer-Nava,
- and Juan Carlos Rivera-Mulia
Genome Res. April 2026 36: 802-813; Published in Advance March 19, 2026, doi:10.1101/gr.281532.125
..., and libraries were prepared for stranded mRNA sequencing. These standard analyses confirmed the close alignment of RT programs with compartmentalization as measured by Hi-C, as well as enrichment of active gene expression in active-early replicating genomic compartments (Fig. 3A). However, these data sets were...
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Research: Natural diversity of telomere length distributions across 100 Saccharomyces cerevisiae strains
- Clotilde Garrido,
- Cintia Gómez-Muñoz,
- Etienne Kornobis,
- Nicolas Agier,
- Oana Ilioaia,
- Gilles Fischer,
- and Zhou Xu
Genome Res. March 2026 36: 522-533; Published in Advance January 16, 2026, doi:10.1101/gr.281132.125
...with 70% ethanol, the DNA were resuspended in TE buffer. DNA quantity was controlled by Qubit dsDNA HS assay.Oxford Nanopore Technologies sequencingLibrary preparation and Oxford Nanopore Technologies (ONT) sequencing were performed based on the protocol of “1D Native barcoding genomic DNA with EXP-NBD104...
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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
...of these notable repeat elements.Short tandem repeats (STRs), or microsatellites, are repetitive genomic elements found in both eukaryotes and prokaryotes in which a small motif, from 1 or 2 to 6–13 bp long (International Human Genome Sequencing Consortium 2001; Ellegren 2004; Chiu et al. 2021), is repeated...
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Method: Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation
- Sophia N. Lee,
- Erin C. Banda,
- Lu Qiao,
- Sarah L. Thompson,
- Karan Singh,
- Ryan A. Hagenson,
- Teresa Davoli,
- Stefan F. Pinter,
- and Jason M. Sheltzer
Genome Res. March 2026 36: 547-560; Published in Advance January 12, 2026, doi:10.1101/gr.280425.125
...located within the duplicated region. (F) Copy numbers of CSMD1 and MICU3 after passaging proband cells for 12, 22, 33, 40, and 50 passages. Mean ± SEM; data from representative trials are shown (n ≥ 3 total trials). Genomic DNA from the near-diploid MCF10A cell line was used as a control...
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Method: A spectral component approach leveraging identity-by-descent graphs to address recent population structure in genomic analysis
- Ruhollah Shemirani,
- Gillian M. Belbin,
- Sinead Cullina,
- Christa Caggiano,
- Christopher R. Gignoux,
- Noah Zaitlen,
- and Eimear E. Kenny
Genome Res. March 2026 36: 534-546; Published in Advance December 23, 2025, doi:10.1101/gr.280659.125
...Ruhollah Shemirani1, Gillian M. Belbin1,9, Sinead Cullina1,2, Christa Caggiano1, Christopher R. Gignoux3,4, Noah Zaitlen5,6,7 and Eimear E. Kenny1,2,8 1Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA; 2Department of Genetics and Genomic Sciences...
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Review: Recent advances in methods to characterize archaic introgression in modern humans
- David Peede,
- Mayra M. Bañuelos,
- Jazeps Medina Tretmanis,
- Miriam Miyagi,
- and Emilia Huerta-Sánchez
Genome Res. February 2026 36: 239-256; Published in Advance January 16, 2026, doi:10.1101/gr.278993.124
...introgression presents unique challenges, particularly because of the limitations of ancient DNA (aDNA) sequencing. Although extensive genomic data exists for modern populations (The 1000 Genomes Project Consortium 2015; Mallick et al. 2016; Bergström et al. 2020; Byrska-Bishop et al. 2022), high...
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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
...Bio) and Oxford Nanopore Technologies (ONT) are revolutionizing genomics: They are making chromosome-level assemblies routine, and full diploid, telomere-to-telomere (T2T) assemblies are becoming the standard for human assemblies. LRS employs single-molecule sequencing, avoiding many biases, errors...
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Research: Epigenetic and evolutionary features of ape subterminal heterochromatin
- DongAhn Yoo,
- Katherine M. Munson,
- and Evan E. Eichler
Genome Res. January 2026 36: 38-49; Published in Advance October 22, 2025, doi:10.1101/gr.280987.125
...12% (10/82) of haplotype comparisons show >99% sequence identity with >50% alignment coverage. Most haplotype comparisons show >10% sequence divergence (Supplemental Figs. S10–S13). A comparison with other genomic regions, including centromere, acrocentric, and remaining regions, reveals...
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