🧬 Category

genomics

368 papers

Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.

At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.

🧬 genomics

Saturation-seq integrates single-cell saturation genome editing and RNA-seq to quantify NFE2L2 (NRF2) variant effects

The authors developed Saturation-seq, a high-throughput single-cell platform combining saturation genome editing with RNA-seq to comprehensively quantify the functional effects of NFE2L2 variants by linking endogenous genomic edits to transcriptional impacts, achieving high accuracy in distinguishing pathogenic from benign mutations and enabling clinical interpretation of tumor and germline data.

Strauss, M. E., Waters, A. J., Roberston, H., Brendler-Spaeth, T., Gontarczyk, A., Gupta, P., Kataria, S., Gitterman, D. (…)2026-07-04
🧬 genomics

Cohesin residence time gates 3D genome response to histone hyperacetylation

This study demonstrates that cohesin residence time acts as a critical molecular gate determining whether histone hyperacetylation triggers higher-order 3D genome reorganization, with rapid cohesin turnover sensitizing the genome to epigenomic changes while stabilized cohesin complexes render it refractory to such remodeling.

Smith, R. G., Schiela, K. L., Wilson, H. M., Williams, R. A., Johnson, J., Cohen, C. B., Yueh, W.-T., Whitaker, A. M., J (…)2026-07-04
🧬 genomics

Genomic islands of divergence reveal selection on the alternate homeolog in upper Fraser River sockeye run-timing groups

This study utilizes whole-genome resequencing to identify a large, adaptive genomic island on chromosome 18 containing an *lrrc9-like* homeolog that distinguishes specific upper Fraser River sockeye salmon run-timing groups, reinforcing the critical role of homeologous regions in driving local adaptation and run timing diversity.

Sutherland, B. J. G., Williamson, C., Toth, B., Sterritt, G.2026-07-03
🧬 genomics

Scalable genotyping in fixed transcriptomes resolves clonal heterogeneity via single-cell sequencing

The authors introduce GIFT, a scalable single-cell assay that simultaneously profiles whole transcriptomes and targeted somatic mutations in fixed tissues, enabling the resolution of clonal heterogeneity and genotype-to-phenotype relationships in myeloproliferative neoplasms.

Blattman, S. B., Maslah, N., Varela, A. A., Kumpaitis, K., Nalbant, B., Snopkowski, C., Mariani, M., Kida, L. C., Takiza (…)2026-07-03
🧬 genomics

First chromosome-scale genome assemblies and comprehensive structural characterization of Tunisian durum wheat (Triticum turgidum subsp. durum) landraces Chili and Mahmoudi

This study presents the first chromosome-scale genome assemblies and comprehensive structural characterization of two historically significant Tunisian durum wheat landraces, Chili and Mahmoudi, utilizing PacBio HiFi and Hi-C data to generate high-quality, reproducible genomic resources that surpass existing references and are accessible via public platforms.

GDOURA BEN AMOR, M., MATHLOUTHI, N. E. H., BELGUITH, I.2026-07-03
🧬 genomics

Positional grammar of transcription factor binding partitions developmental and stress-response regulation in plants

By integrating multi-species transcription factor binding maps with chromatin accessibility and gene expression data, this study reveals that the specific genomic position and chromatin context of transcription factor binding sites establish a "positional grammar" that partitions gene regulation into distinct developmental, stress-responsive, and repressive functions in plants.

Morales-Cruz, A., Greenblum, S. I., Wang, P., Zhang, Y., Yang, L., Daum, C., Johnson, J., Baumgart, L. A., O'Malley, R. (…)2026-07-02
🧬 genomics

Nitrogen use efficiency in pigs is associated with transcriptomic signatures related to amino acid metabolism, immune activity, and nutrient partitioning

This study demonstrates that nitrogen use efficiency in pigs is driven by coordinated, tissue-specific transcriptomic adaptations in the liver and skeletal muscle, where high-efficiency animals exhibit reduced amino acid catabolism and inflammation alongside enhanced pathways for protein synthesis, lipid processing, and lean growth.

Monney, B., Ewaoluwagbemiga, E. O., Kasper, C.2026-07-01
🧬 genomics

Pericystic brain transcriptomics reveals molecular signatures of immune activation and neurovascular remodelling in viable and post-treatment porcine neurocysticercosis

This study utilizes bulk RNA sequencing in a porcine model to reveal that while both viable and post-treatment neurocysticercosis involve immune activation, they exhibit distinct transcriptional signatures, with viable infection suppressing blood-brain barrier (BBB) remodeling and post-treatment disruption driving inflammatory signaling and active neurovascular remodeling.

Apaza-Quiroz, C. A., Rojas-Portocarrero, C. C., Gutierrez Guarnizo, S. A., Ponce-Nakatahara, E. K., Bustos, J. A., Arroy (…)2026-07-01
🧬 genomics

Mammal placental phenotypes are predictable from microRNA repertoires.

This study demonstrates that mammalian placental phenotypes are highly predictable from microRNA repertoires, revealing that convergent evolution of complex placental structures is constrained to specific, reproducible genetic pathways mediated by conserved miRNA regulatory networks.

Fenn, J., Edge, J. C., Ovchinnikov, V., Amelkina, O., Sinclair, M., De Bem, T. H. C., Bridi, A., Malo-Estepa, I., Gonell (…)2026-06-29