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Research: Somatic retrotransposition in the developing rhesus macaque brain
- Victor Billon,
- Francisco J. Sanchez-Luque,
- Jay Rasmussen,
- Gabriela O. Bodea,
- Daniel J. Gerhardt,
- Patricia Gerdes,
- Seth W. Cheetham,
- Stephanie N. Schauer,
- Prabha Ajjikuttira,
- Thomas J. Meyer,
- Cora E. Layman,
- Kimberly A. Nevonen,
- Natasha Jansz,
- Jose L. Garcia-Perez,
- Sandra R. Richardson,
- Adam D. Ewing,
- Lucia Carbone,
- and Geoffrey J. Faulkner
Genome Res. July 2022 32: 1298-1314; Published in Advance June 21, 2022, doi:10.1101/gr.276451.121
...(Phillips et al. 2014; Feng et al. 2020). L1 copies comprise 16% of the macaque reference , including about 44,000 annotated as rhesus-specific L1 (L1RS) sequences (Tang and Liang 2019; Warren et al. 2020). L1RS2 is the youngest and most active macaque L1 subfamily and incorporates 2235 full-length (>6-kbp...
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Method: Robust and efficient annotation of cell states through gene signature scoring
- Laure Ciernik,
- Agnieszka Kraft,
- Florian Barkmann,
- Josephine Yates,
- and Valentina Boeva
Genome Res. March 2026 36: 630-644; Published in Advance February 18, 2026, doi:10.1101/gr.280926.125
..., particularly for unsupervised cellular state annotation based on maximum signature score values. However, this application requires robust and comparable score distributions across diverse signatures and experimental conditions. Our systematic evaluation of established scoring methodologies—Seurat, SCANPY...
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Method: Highly accurate reference and method selection for universal cross–data set cell type annotation with CAMUS
- Qunlun Shen,
- Shuqin Zhang,
- and Shihua Zhang
Genome Res. November 2025 35: 2527-2538; Published in Advance October 1, 2025, doi:10.1101/gr.280821.125
...microenvironment. The prevalent manual annotation approach groups single cells into several clusters and annotates them based on unique molecular signatures (Clarke et al. 2021). This process needs prior biological knowledge and is time-consuming. However, as scRNA-seq can profile all genes (typically numbering...
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Research: Unraveling the architecture of major histocompatibility complex class II haplotypes in rhesus macaques
- Nanine de Groot,
- Marit van der Wiel,
- Ngoc Giang Le,
- Natasja G. de Groot,
- Jesse Bruijnesteijn,
- and Ronald E. Bontrop
Genome Res. November 2024 34: 1811-1824; Published in Advance October 23, 2024, doi:10.1101/gr.278968.124
...interfering RNAs (siRNAs) and long noncoding RNAs (lncRNAs), with the 3D remodeling of chromatin structures, and with recombination processes, such as gene conversion (Cheetham et al. 2020). These protein-independent functions might explain the conservation of “pseudogenes” that still have biological...
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Perspective: Notable challenges posed by long-read sequencing for the study of transcriptional diversity and genome annotation
- Carolina Monzó,
- Adam Frankish,
- and Ana Conesa
Genome Res. April 2025 35: 583-592; Published in Advance March 3, 2025, doi:10.1101/gr.279865.124
..., Jungreis I, Arnan C, Lagarde J, Borsari B, et al. 2024. GENCODE: massively expanding the lncRNA catalog through capture long-read RNA sequencing. bioRxiv doi:10.1101/2024.10.29.620654 ↵Keane TM, Goodstadt L, Danecek P, White MA, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, et al. 2011. Mouse...
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Resource: Integrative chromatin state annotation of 234 human ENCODE4 cell types using Segway
- Marjan Farahbod,
- Aboud Diab,
- Paul Sud,
- Meenakshi S. Kagda,
- Ian Whaling,
- Mehdi Foroozandeh,
- Ishan Goel,
- Habib Daneshpajouh,
- Benjamin Hitz,
- J. Michael Cherry,
- and Maxwell W. Libbrecht
Genome Res. October 6, 2025 gr.280633.125; Published in Advance October 6, 2025, doi:10.1101/gr.280633.125
...and color indicates annotation label. Samples are clustered based on the annotation in this locus. NRAP is only expressed in heart ventricle and skeletal muscle, clustered at the top rows of the matrix (marked by black and gray black and gray color bars respectively at the top left). CASP7 is widely...
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Resource: Complete sequencing of a cynomolgus macaque major histocompatibility complex haplotype
- Julie A. Karl,
- Trent M. Prall,
- Hailey E. Bussan,
- Joshua M. Varghese,
- Aparna Pal,
- Roger W. Wiseman,
- and David H. O'Connor
Genome Res. March 2023 33: 448-462; Published in Advance February 28, 2023, doi:10.1101/gr.277429.122
...assembly is exemplified by the identification of an extended cluster of six Mafa-AG genes that contains a recent duplication with a highly similar ∼48.5-kb block of sequence. The MHC class II region of this M3 haplotype is similar to the previously sequenced rhesus macaque haplotype and HLA class II...
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Resource: Generation and analysis of a mouse multitissue genome annotation atlas
- Matthew Adams and
- Christopher Vollmers
Genome Res. November 2024 34: 2108-2117; Published in Advance October 23, 2024, doi:10.1101/gr.279217.124
...Table S3). Across all tissues, an average of 91% of these annotated genes were classified as the gene type “protein_coding” by GENCODE, followed by “lncRNA” (7%) and “processed_pseudogene” (1%) (Supplemental Table S4).For each tissue, SQANTI3 further categorized each Mandalorion isoform based on how...
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Method: Evaluation of strategies for evidence-driven genome annotation using long-read RNA-seq
- Alejandro Paniagua,
- Cristina Agustín-García,
- Francisco J. Pardo-Palacios,
- Thomas Brown,
- Maite De Maria,
- Nancy D. Denslow,
- Camila J. Mazzoni,
- and Ana Conesa
Genome Res. April 2025 35: 1053-1064; Published in Advance December 23, 2024, doi:10.1101/gr.279864.124
...short reads (Supplemental Fig. S1C). Lastly, we applied the long-read evidence-driven approach to the annotation of the Florida manatee , recently sequenced by the LRGASP consortium (Pardo-Palacios et al. 2024b), using blood and brain lrRNA-seq data as experimental evidence sources. We then compared...
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Research: Comprehensive functional annotation of ESR1-driven enhancers in breast cancer reveals hierarchical activity independent of genomic and epigenomic contexts
- Yanis Zekri,
- Sebastian Gregoricchio,
- Elif Yapıcı,
- Chia-Chi Flora Huang,
- Tunç Morova,
- Umut Berkay Altıntaş,
- Gozde Korkmaz,
- Nathan A. Lack,
- and Wilbert Zwart
Genome Res. July 2025 35: 1530-1543; Published in Advance June 10, 2025, doi:10.1101/gr.280320.124
...and inactive ERBS did (Fig. 1G).To assess the correlation between STARR-seq-based ERBS annotation and enhancer activity within the native chromatin context, we analyzed GRO-seq signal (GEO; GSE27463) (Hah et al. 2011) at ERBS following E2 stimulation, as enhancer transcription is a well-established readout...

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