Searching journal content for articles similar to Dhokarh and Abyzov 26 (7): 874.

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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
....Here we present EquiRep, a new tool for reconstructing the tandem repeat unit from error-prone sequences. EquiRep stands out for its robustness against sequencing errors, as well as for its effectiveness in detecting repeats of low copy numbers. EquiRep employs a novel idea that identifies equivalent...
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Research: Cell-type- and chromosome-specific chromatin landscapes and DNA replication programs of Drosophila testis tumor stem cell–like cells
- Jennifer A. Urban,
- Daniel Ringwalt,
- John M. Urban,
- Wingel Xue,
- Ryan Gleason,
- Keji Zhao,
- and Xin Chen
Genome Res. January 2026 36: 83-101; Published in Advance December 10, 2025, doi:10.1101/gr.280809.125
...-translational modifications, play a crucial role in regulating programs integral to a cell's identity, like gene expression and DNA replication. However, the transcriptional, chromatin, and replication timing profiles of adult stem cells in vivo remain poorly understood. Containing germline stem cells (GSCs) and somatic cyst...
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Method: Analytical validation of germline small variant detection using long-read HiFi genome sequencing
- Nathan Hammond,
- Linda Liao,
- Pun Wai Tong,
- Zena Ng,
- Thuy-Mi P. Nguyen,
- Chandler Ho,
- Yao Yang,
- and Stuart A. Scott
Genome Res. June 2025 35: 1391-1399; Published in Advance April 11, 2025, doi:10.1101/gr.278836.123
...Analytical validation of germline small variant detection using long-read HiFi sequencing Nathan Hammond1,3, Linda Liao1, Pun Wai Tong1, Zena Ng1, Thuy-Mi P. Nguyen2, Chandler Ho1, Yao Yang1,2 and Stuart A. Scott1,2 1Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California 94304, USA...
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Research: Vertebrates show coordinated elevated expression of mitochondrial and nuclear genes after birth
- Hadar Medini and
- Dan Mishmar
Genome Res. March 2025 35: 459-474; Published in Advance March 4, 2025, doi:10.1101/gr.279700.124
...–encoded OXPHOS gene expression in Data sets I, II, and IV (Table 2; Fig. 3A,B; Supplemental Figs. S11, S12). It is worth noting that we used the sliding windows approach as in the mtDNA analyses (Supplemental Figs. S13–S18). This finding supports the hypothesis that the elevation of OXPHOS genes’ expression...
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Research: KRAB zinc-finger proteins regulate endogenous retroviruses to sculpt germline transcriptomes and genome evolution
- Kai Otsuka,
- Akihiko Sakashita,
- So Maezawa,
- Richard M. Schultz,
- and Satoshi H. Namekawa
Genome Res. March 2025 35: 417-431; Published in Advance March 12, 2025, doi:10.1101/gr.279924.124
...consequence of such coevolution would be lineage-specific germline transcriptomes. Notably, this window of coevolution coincides with -wide changes in chromatin state and epigenomic modifications from mitosis to meiosis (Sin et al. 2015; Maezawa et al. 2018b; Alavattam et al. 2019; Patel et al. 2019; Wang et...
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Method: ScisTree2 enables large-scale inference of cell lineage trees and genotype calling using efficient local search
- Haotian Zhang,
- Yiming Zhang,
- Teng Gao,
- and Yufeng Wu
Genome Res. December 2025 35: 2781-2791; Published in Advance September 3, 2025, doi:10.1101/gr.280542.125
...variants, which constitute the primary data used for inferring cell lineage trees. The primary class of genomic variants studied in this paper is the single nucleotide variant (SNV). We do not consider more complex variants such as copy number variations (CNVs) for cell lineage tree inference (see...
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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
...and concordance rates we consistently observe for TR loci (Figs. 1, 2; Tables 2, 3), which do not undergo rearrangement in LCLs, strongly support this interpretation. We anticipate that applying ImmunoTyper2 to more suitable sample types for germline analysis, such as whole blood or non–B cell tissues, would...
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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. March 19, 2026 ; Published in Advance March 19, 2026, doi:10.1101/gr.281532.125
...into functional compartments that replicate at specific times during S-phase. This temporal program, referred to as replication timing (RT), is coregulated with the 3D organization, is cell type–specific, and changes during development in coordination with gene expression. Moreover, RT alterations are linked...
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Method: De novo antibody identification in human blood from full-length single B cell transcriptomics and matching haplotype-resolved germline assemblies
- John Beaulaurier,
- Lynn Ly,
- J. Andrew Duty,
- Carly Tyer,
- Christian Stevens,
- Chuan-Tien Hung,
- Akash Sookdeo,
- Alex W. Drong,
- Shreyas Kowdle,
- Axel Guzman-Solis,
- Domenico Tortorella,
- Daniel J. Turner,
- Sissel Juul,
- Scott Hickey,
- and Benhur Lee
Genome Res. April 2025 35: 929-941; Published in Advance March 21, 2025, doi:10.1101/gr.279392.124
...from use of long reads that can resolve their complex structures and improve haplotype phasing (Kolmogorov et al. 2023). However, individual single-cell transcriptomes have so far not been paired with germline assemblies from the same donor. Haplotyped structural variants and heterogeneity of IG V, D...
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Method: FocalSV enables target region–based structural variant assembly and refinement using single-molecule long-read sequencing data
- Can Luo,
- Zimeng Jamie Zhou,
- Yichen Henry Liu,
- and Xin Maizie Zhou
Genome Res. October 2025 35: 2252-2272; Published in Advance August 13, 2025, doi:10.1101/gr.280282.124
...and expand regions with potential structural variants to enable more comprehensive detection. FocalSV is evaluated on 10 germline data sets and two paired normal-tumor cancer data sets, demonstrating superior performance in both precision and efficiency.Single nucleotide variants (SNVs) constitute the most...
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