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Resource: Exploring the epigenome profiles of repetitive elements with the WashU Repeat Browser
- Jiawei Shen,
- Siyuan Cheng,
- Deepak Purushotham,
- Xiaoyu Zhuo,
- Alan Y Du,
- Wenjin Zhang,
- Daofeng Li,
- and Ting Wang
Genome Res. February 21, 2025 gr.279764.124; Published in Advance February 21, 2025, doi:10.1101/gr.279764.124
...access or command line tools. Software availability The code for the Repeat Browser website can be found on GitHub (https://github.com/twlab/Repeat-Browser) and the Supplemental Code S1 file. The code for the data processing pipeline can be found on GitHub (https...
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Resource: Common and specific gene regulatory programs in zebrafish caudal fin regeneration at single-cell resolution
- Yujie Chen,
- Yiran Hou,
- Qinglin Zeng,
- Irene Wang,
- Meiru Shang,
- Kwangdeok Shin,
- Christopher Hemauer,
- Xiaoyun Xing,
- Junsu Kang,
- Guoyan Zhao,
- and Ting Wang
Genome Res. January 2025 35: 202-218; Published in Advance January 14, 2025, doi:10.1101/gr.279372.124
...common and cell-type-specific regeneration-responsive gene (RRG) programs and cis-regulatory elements, as well as key TFs associated with stages and cell types during regeneration, enhancing our understanding of tissue regeneration.ResultsSingle-nucleus multiomic profiling of zebrafish caudal fin...
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Research: Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
- Hao Zhu,
- Jiao Zhang,
- Soumya Rao,
- Matthew D. Durbin,
- Ying Li,
- Ruirui Lang,
- Jiqiang Liu,
- Baichuan Xiao,
- Hailin Shan,
- Ziqiu Meng,
- Jinmo Wang,
- Xiaokai Tang,
- Zhenni Shi,
- Liza L. Cox,
- Shouqin Zhao,
- Stephanie M. Ware,
- Tiong Y. Tan,
- Michelle de Silva,
- Lyndon Gallacher,
- Ting Liu,
- Jie Mi,
- Changqing Zeng,
- Hou-Feng Zheng,
- Qingguo Zhang,
- Stylianos E. Antonarakis,
- Timothy C. Cox,
- and Yong-Biao Zhang
Genome Res. May 2025 35: 1065-1079; Published in Advance April 15, 2025, doi:10.1101/gr.280047.124
...version: In this window In a new window Figure 1. Distribution of putative deleterious variants and common SNP associations in SHROOM3 among CFM patients and healthy Chinese. (A) The schematic delineates the PDZ, ASD1, and ASD2 domains of the SHROOM3 protein, color-coded in yellow, blue, and green...
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Resource: Recent, full-length gene retrocopies are common in canids
- Kevin Batcher,
- Scarlett Varney,
- Daniel York,
- Matthew Blacksmith,
- Jeffrey M. Kidd,
- Robert Rebhun,
- Peter Dickinson,
- and Danika Bannasch
Genome Res. August 2022 32: 1602-1611; Published in Advance August 12, 2022, doi:10.1101/gr.276828.122
..., and at a track hub for the UCSC Genome Browser available at GitHub (https://github.com/klbatcher/retroCNV_insertions).Competing interest statementThe authors declare no competing interests.AcknowledgmentsWe thank Laura Kirby for helpful discussions related to the use of long-read data to detect retrogene...
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Resource: The fine-scale recombination rate variation and associations with genomic features in a butterfly
- Aleix Palahí i Torres,
- Lars Höök,
- Karin Näsvall,
- Daria Shipilina,
- Christer Wiklund,
- Roger Vila,
- Peter Pruisscher,
- and Niclas Backström
Genome Res. May 2023 33: 810-823; Published in Advance June 12, 2023, doi:10.1101/gr.277414.122
...that larger chromosomes had a bimodal recombination landscape, potentially caused by interference between simultaneous chiasmata. The recombination rate was significantly lower in subtelomeric regions, with exceptions associated with segregating chromosome rearrangements, showing that fissions and fusions can...
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Research: Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations
- Anu Toropainen,
- Lindsey K. Stolze,
- Tiit Örd,
- Michael B. Whalen,
- Paula Martí Torrell,
- Verena M. Link,
- Minna U. Kaikkonen,
- and Casey E. Romanoski
Genome Res. March 2022 32: 409-424; Published in Advance February 22, 2022, doi:10.1101/gr.276064.121
...to ascertain despite demonstrated associations to common, complex disease traits. To elucidate properties of functional noncoding SNPs with effects in human endothelial cells (ECs), we utilized our previous molecular quantitative trait locus (molQTL) analysis for transcription factor binding, chromatin...
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Perspective: Applications of single-cell genomics and computational strategies to study common disease and population-level variation
- Benjamin J. Auerbach,
- Jian Hu,
- Muredach P. Reilly,
- and Mingyao Li
Genome Res. October 2021 31: 1728-1741; doi:10.1101/gr.275430.121
...of many variables, such as chromatin conformation, DNA methylation, histone modifications, etc., to take on unique cell states. These cell states, such as those associated with our common notions of cell types, enable cells to perform specific functions. Through the interaction of cells within local...
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Method: Precise genotyping of circular mobile elements from metagenomic data uncovers human-associated plasmids with recent common ancestors
- Nitan Shalon,
- David A. Relman,
- and Eitan Yaffe
Genome Res. May 2022 32: 986-1003; Published in Advance April 12, 2022, doi:10.1101/gr.275894.121
...with recent common ancestors. This method facilitates the study of microbial communities that evolve through horizontal gene transfer.Horizontal gene transfer (HGT) is a major driver of microbial evolution (Soucy et al. 2015). HGT supports the rapid adaptation of microbes to ecological niches (Wiedenbeck...
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Method: Exploring dimension-reduced embeddings with Sleepwalk
- Svetlana Ovchinnikova and
- Simon Anders
Genome Res. May 2020 30: 749-756; Published in Advance May 19, 2020, doi:10.1101/gr.251447.119
...in all the cells. The filtered raw data were then used to create Seurat objects that can be found at Figshare, doi:10.6084/m9.figshare.7910483, or on GitHub, https://github.com/anders-biostat/sleepwalk/tree/paper, in the “data” folder. We used Seurat to normalize and log-transform raw counts and find...
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Research: Dissecting the regulatory activity and sequence content of loci with exceptional numbers of transcription factor associations
- Ryne C. Ramaker,
- Andrew A. Hardigan,
- Say-Tar Goh,
- E. Christopher Partridge,
- Barbara Wold,
- Sara J. Cooper,
- and Richard M. Myers
Genome Res. July 2020 30: 939-950; Published in Advance July 2, 2020, doi:10.1101/gr.260463.119
...562, respectively. DAPs were assigned to classes based on previous definitions (Lambert et al. 2018). This BED file binning method can be reproduced using the “SMART_BED_MERGE” repository available in the Supplemental Material and at GitHub (https://github.com/rramaker/GenomeTools2020/).Motif...
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